Showing papers in "International Journal of Human Genetics in 2008"
TL;DR: It is proposed that the present day Dravidian speaking populations of South India are the descendants of earliest Pleistocene settlers while Austro-Asiatic speakers came from SE Asia in a later migration event.
Abstract: Paleoanthropological evidence indicates that modern humans reached South Asia in one of the first dispersals out of Africa, which were later followed by migrations from different parts of the world...
36 citations
TL;DR: In this article, the results of a case study, carried out on the Mushar populations, which is thought to have undergone language shift from Munda (an Austro-Asiatic language) to Hindi (an Indo- European language), were reported.
Abstract: KEYWORDS Mushar; language shift; mtDNA; Y-chromosome ABSTRACT Language shift is a phenomenon where a new language is adopted by a population with virtually no influence on its genetic makeup. We report here the results of a case study, carried out on the Mushar populations, which is thought to have undergone language shift from Munda (an Austro-Asiatic language) to Hindi (an Indo- European language). We compared the mtDNA and Y-chromosomal phylogenies of this population with those of the neighbouring Indo-European and Austro-Asiatic speaking populations, standing at similar social status. The results revealed much closer genetic affinity of the Mushar people to the neighbouring Austro-Asiatic (Mundari) populations, than to the neighbouring Hindi-speaking populations. This example shows that the language shift as such is not necessarily a signal for a rapid genetic admixture, either maternally or paternally.
25 citations
TL;DR: In general, the biological evidence demonstrates that the Gran Chaco tribes present high genetic diversity and low differentiation among populations, when compared to other regions of South America.
Abstract: The Gran Chaco region is a vast subtropical plain in South America that covers part of the territories of Argentina, Paraguay, and Bolivia, being the refuge of some of the last hunter-gathe...
18 citations
TL;DR: A comprehensive review of studies on the association of this gene with type II diabetes is presented, showing some hope as the robust genetic approach like genome-wide association studies seem to corroborate the evidence in favour of association ofThis gene with predisposition to the disease.
Abstract: The genetics of the complex disorder like Diabetes Type II, which is clinically diagnosed as disease of insulin resistance and impaired insulin secretion leading to impaired glucose homeostasis in body, remains a nightmare for geneticists. But the recent progress in identification of a most promising marker in predisposition of diabetes Type II, namely, TCF7L2 with its large effect size and its global presence in various ethnically and geographically different populations offers some hope as the robust genetic approach like genome-wide association studies seem to corroborate the evidence in favour of association of this gene with predisposition to the disease. This paper presents a comprehensive review of studies on the association of this gene with type II diabetes.
18 citations
TL;DR: An attempt has been made to review the previous studies of association between two molecular genetic markers, TNF-α (-308 G/A) and IFN- γ (+874 A/T), and recurrent pregnancy loss.
Abstract: It is a well-known fact that pro-inflammatory cytokines exert an adverse effect on conceptus and result in pregnancy failure and there are mutations reported in certain genes regulating the production of these Th-1 type cytokines. In view of the cytokine gene polymorphisms known to cause high and low production of various pro- inflammatory and anti-inflammatory cytokines, a number of studies have been performed to reveal the association between these polymorphisms and recurrent pregnancy loss, but surprisingly contradictory results are reported which may be attributed to inclusion of heterogeneous samples resulting in false positive or false negative results. In the present paper, an attempt has been made to review the previous studies of association between two molecular genetic markers, TNF-α (-308 G/A) and IFN- γ (+874 A/T), and recurrent pregnancy loss.
18 citations
TL;DR: The molecular evidence indicates that M1 is spread across Sub-Saharan Africa, Arabia/Yemen and is even found in India; while the Indian haplogroup M3 is found on the Horn of Africa, Saudi Arabia, and Iran along a migration path to South India, which is congruent with anthropological, linguistic and archaeological evidence that suggest a recent African origin for the Dravidian speakers in Nubia.
Abstract: Some Researchers argue that there should be more cooperation between anthropologist and population geneticists due to the confounding variables that can influence patterns of interaction between populations and population structure generally, which are usually unknown by molecular biologists who know only the molecular evidence. They argue that the absence of cooperation between these groups may be the cause of disparity between the dates for Indian haplogroups among different population geneticists and interpretations of Indian populations. For example, many researchers claim that the Indian M haplogroup originated in situ among Dravidian speakers, because haplogroup M1 is only found in East Africa. Using molecular evidence we find that M1 is not isolated in East Africa. The molecular evidence indicates that M1 is spread across Sub-Saharan Africa, Arabia/Yemen and is even found in India; while the Indian haplogroup M3 is found on the Horn of Africa, Arabia/Yemen, and Iran along a migration path to South India, which is congruent with anthropological, linguistic and archaeological evidence that suggest a recent African origin for the Dravidian speakers in Nubia.
16 citations
TL;DR: Identification of genetic variations underlining the disease would immensely lead to recognition of presymptomatic diabetic individuals susceptible to develop DR and help in planning appropriate clinical management and genetic counseling of patients.
Abstract: KEYWORDS Diabetic retinopathy; genetic predisposition; gene-mapping ABSTRACT Diabetic retinopathy (DR), a microvascular complication of diabetes in the retina, is one of the leading causes of adult blindness worldwide. Complex interplay of environmental and genetic factors has been known to contribute to its pathology. Variations in several genes have been found to be associated with risk for developing DR in different populations worldwide, which is discussed in this article. Identification of genetic variations underlining the disease would immensely lead to recognition of presymptomatic diabetic individuals susceptible to develop DR and help in planning appropriate clinical management and genetic counseling of patients.
12 citations
TL;DR: Indel polymorphisms are becoming increasingly useful markers for population genetic studies, making them useful as markers for distinguishing chromosomal lineages identical by descent and for using in population diversity studies.
Abstract: Indel polymorphisms are becoming increasingly useful markers for population genetic studies. These are stable mutational events that are unlikely to undergo reverse or convergent mutations, making them useful as markers for distinguishing chromosomal lineages identical by descent and for using in population diversity studies. There has been a great deal of interest to use retrotransposones like Alu element, which displays indel polymorphism, in the population diversity studies. The polymorphic Alu insertions are particularly useful for such studies because the probability of independent retroposition at the same exact chromosomal site is virtually zero. All loci carrying a particular Alu insertion are derived from a unique event and hence are identical by descent. Further the ancestral state for polymorphic Alu insertions is the absence of the insertion hence the direction of mutational change is the gain of the Alu element at a particular locus. Knowing the ancestral state and the direction of mutational change greatly facilitates the analysis of population relationship but is generally not possible for other types of loci. These features make Alu insertion polymorphisms more attractive than other autosomal classical markers for analyses of population history and structure. This review is focused on Alu element and its role in detecting population diversity with few empirical examples from around the world. The phylogenetic studies based on Alu polymorphisms on Indian populations has also been presented.
12 citations
TL;DR: An attempt has been made to evaluate the merit of the molecular studies in the perspective of unique population structure of India and bring out salient features of the findings.
Abstract: Indian population is characterized by wide diversity and unique population structure shaped by different waves of migration and the practice of caste endogamy. Anthropologists have been studying the peopling of India and the relationships between different populations using traditional genetic markers. With the advent of molecular genetic techniques the focus has turned to using the DNA polymorphisms for resolving different anthropological questions and to test the different hypotheses in vogue. In this paper we make an attempt to critically review the trends in molecular anthropological studies till date and bring out salient features of the findings. An attempt has been made to evaluate the merit of the molecular studies in the perspective of unique population structure of India.
10 citations
TL;DR: Nested cladistic analysis identified subhaplogroup D5a as the product of a long distance colonization event and potential founder lineage for the Yakuts, dating to approximately 1,630 years BP, affirming the south origin model.
Abstract: The Yakuts are a Turkic-speaking population of northeastern Siberia and based on archaeological and ethnohistorical evidence are believed to have originated from Turkic populations in south Siberia. To investigate this model, the HVS-I of the mitochondrial DNA control region was sequenced for 144 Yakut individuals representing seven communities from central Yakutia and compared to HVS-I data for other Asian populations. Haplogroups C and D comprise 75.7% of the Yakut sample, with only 9.7% assigned to west Eurasian lineages. The Ewens-Watterson homozygosity test revealed a significant deviation ( P = 0.045) in the observed frequencies of common haplotypes relative to the expected values, indicating the genetic effects of a founder event. This is supported by a fragmented MJ network dominated by high-frequency haplotypes within haplogroups C and D. Nested cladistic analysis identified subhaplogroup D5a as the product of a long distance colonization event and potential founder lineage for the Yakuts, dating to approximately 1,630 years BP. SAMOVA analyses and MDS plot of genetic distances show close genetic affinities between the Yakuts and south Siberian populations, and thus affirming the south origin model.
10 citations
TL;DR: It is proposed to remove a layer of cortex or medulla in the UEG depending on the objective and task of the research and the amount of constitutive heterochromatin region in the chromosomes of the undifferentiated embryonic gonads is determined.
Abstract: Seemingly, the sex differentiation (SD) in animals and human is determined by the amount of constitutive heterochromatin region (HR) in the chromosomes of the undifferentiated embryonic gonads (UEG) via cell thermoregulation. It is assumed the medulla and cortex tissue cells in the UEG differ in vulnerability to the increase of the intracellular temperature. If the amount of the HR is enough for efficient elimination of heat difference between the nucleus and cytoplasm in rapidly growing UEG cells the medulla tissue survives. Otherwise it doomed to degeneration and a cortex tissue will remain in the UEG. For artificial regulation of the SD it is proposed to remove a layer of cortex or medulla in the UEG depending on the objective and task of the research.
TL;DR: Another cluster analysis brings out no distinct cluster of the 5 AP tribes; instead these AP tribal populations are integrated into different subclusters of the UP and Bengal suggesting lack of distinct genetic identity of these AP tribes as far as the few Alu markers are concerned.
Abstract: Five Alu markers (Alu APO, PV 92, TPA 25, D1 and ACE) were studied in five tribal populations namely, Konda Reddi, Koya Dora and Konda Kammara of East Godavari district, Lambada and Chenchu of Maha...
TL;DR: The genetics of AMD is outlined with special emphasis on CFH followed by other genetic variants based on studies done by the group and colleagues worldwide, and the possible molecular mechanisms leading to AMD are provided.
Abstract: KEYWORDS AMD; genes; SNP; genotype; association; CFH ABSTRACT Age-related macular degeneration (AMD) is a late-onset complex disorder with multifactorial etiologies. Both genetic and environmental factors play a role in the disease pathogenesis. AMD is the third leading cause of blindness in the elderly. Familial aggregation, segregation studies and linkage analysis have provided both qualitative and quantitative evidence on the genetic basis in AMD. Several candidate loci have been earlier mapped in AMD but variants in genes viz. APOE, ABCA4, FBLN6 and EFEMP1 harboring these loci have accounted for only a small proportion of cases. Recent screening of two major loci has led to the identification of the Complement Factor H (CFH) on 1q32 and LOC387715 and HTRA1 on the 10q26 gene cluster. Single nucleotide polymorphisms (SNPs) in CFH (Y402H), LOC387715 (A69S) and a promoter variant in HTRA1 have been associated with AMD in large case- control cohorts. These SNPs exhibited large effect sizes and high disease odds for the risk genotypes across different populations. Interestingly, these associations have been widely replicated across multiple ethnic groups worldwide indicating their potential role in the disease pathogenesis. In this review, we would outline the genetics of AMD with special emphasis on CFH followed by other genetic variants based on studies done by our group and colleagues worldwide. We would also provide a brief overview on the possible molecular mechanisms leading to AMD.
TL;DR: A total of 124 chromosomes of 64 unrelated Indian β- thalassemia and β-thalassemia patients along with their family members were studied for their haplotype pattern and mutations.
Abstract: A total of 124 chromosomes of 64 unrelated Indian β- thalassemia and β-thalassemia patients along with their family members were studied for their haplotype pattern and mutations. These included, 35 with β- thalassemia major, 4 with thalassemia trait, and 25 with β-thalassemia. Fourteen mutations were detected by PCR and Sequencing. The most common mutation IVS1-5 (G-C) was linked with 8 different haplotypes. Nineteen haplotypes were found on β-thalassemia mutations, with haplotype (+ - - - - + -) being the most widespread and was found associated with 39 chromosomes of IVS1-5 (G-C), 2 of HPFH and 1 each of CD41/42(-CTTT) and CD16 (-C).
TL;DR: The results suggest the influence of APOE genotype on development of breast cancer and higher frequency of Breast cancer patients with steroid hormone receptor positive status were found to be of 3/4 genotype.
Abstract: Abstract Apolipoprotein E (APO E) is a polymorphic gene involved in lipid metabolism with three common alleles ε2, ε3 and ε4.The ε4 allele has been associated with elevated levels of cholesterol as well as greater risk for coronary heart disease and Alzheimer’s disease. In the present study 110 cases of breast cancer and control were studied for APOE genotype distribution using PCR-RFLP (Polymerase chain reaction-Restriction fragment length polymorphism) technique. Significant association of APOE 3/4 with breast cancer (17.3%) was observed. Higher frequency of Breast cancer patients with steroid hormone receptor positive status (18%) were found to be of 3/4 genotype. The elevation in 3/4 genotype frequencies was also found in premenopausal group (21.6%) and in patients with advanced tumor (77.7%). Body mass index (BMI) and familial incidence did not show association with APOE genotype. The results suggest the influence of APOE genotype on development of breast cancer.
TL;DR: In the context of the well established MHC restriction phenomenon and the role of CTL in controlling HIV viral replication, it has become essential to revisit these areas and better understand the underlying phenomena so that better experiments are designed in future research.
Abstract: KEYWORDS HLA-B57; HIV non progression; genomic diversity; India ABSTRACT Both culturally and biologically, India is one of the mega diversity countries of the world. This pertains to Human Genome Diversity as well. Although little explored so far, HLA is no exception to this. HLA profile varies based on regional, linguistic and caste profiles. HLA alleles identified as common in HIV non progressors in other parts of the world are the commonest in the Vellala related communities of southern India. Migration and selection might be responsible for this. In the context of the well established MHC restriction phenomenon and the role of CTL in controlling HIV viral replication, it has become essential to revisit these areas and better understand the underlying phenomena so that better experiments are designed in future research. The article highlights these aspects in the context of HIV pandemic in India.
TL;DR: A broad historical overview of the studies on the genetic etiology of human obesity, including the recent studies involving candidate gene and whole genome scan approaches using case-control and family samples is presented.
Abstract: Obesity is a complex, heterogeneous group of disorders that is determined by genes, environmental factors and interaction between genes and environment. Body Mass Index (BMI) is a proxy measure for obesity and is the most commonly studied marker for it. Obesity is becoming an increasingly important clinical and public health challenge through out the world. It is associated not only with an increased burden of non-insulin diabetes, hypertension, cardiovascular diseases, some types of cancers and premature mortality but also with the social and psychological effects of excess weight. Because of its larger population size, the developing world has faced with larger burden of overweight and obesity. Several studies have shown that changes in dietary patterns, physical activity levels and life styles associated with diet and urbanization are related to increasing incidence of obesity in India. The risk of obesity is about two to three times higher for an individual with a family history of obesity and it increases with the severity of obesity. In this paper, we present a broad historical overview of the studies on the genetic etiology of human obesity, including the recent studies involving candidate gene and whole genome scan approaches using case-control and family samples. The uniqueness of Indian population structure and its relevance to understanding and/or for disentangling the genetic etiology of complex genetic disorders in general and particularly of human obesity has been emphasized. 18.5 kg/m 2 (under weight), 18.5 - 24.9 kg/m 2 (normal weight), 25.0 - 29.9 kg/m 2 (over weight) 30.0-30.9 kg/m 2 (obese) and e ≥ 40 kg/m 2
TL;DR: Two different models of diffusion, demic and cultural diffusion, have been proposed as an explanation for the spread of languages as mentioned in this paper, and both models have been shown to explain the diffusion of languages.
Abstract: Two different models of diffusion - demic and cultural - have been proposed as an explanation for the spread of languages. Recent studies have shown that in some cases the dispersal of the language...
TL;DR: Investigation of the genetic variation of 3’ untranslated region of APOC3 (SstI) in 312 individuals belonging to four endogamous groups of Punjab showed that Indian population is quite distinct from other Caucasian and Oriental populations.
Abstract: KEYWORDS Protein; ethnic groups; polymorphism; heart disease; medical genetics ABSTRACT Apolipoprotein C3 plays an important role in the receptor mediated hydrolysis of triglyceride rich lipoproteins (TRLs) by inhibition of lipoprotein lipase (LPL), delayed clearance of which causes hypertriglyceridemia (HTG). Indians are considered to be more vulnerable to the adverse effects of hypertriglyceridemia and consequently its probable sequel of cardiovascular disorders. Several studies have revealed the association of rare allele (S2) of APOC3 (SstI) polymorphism with dyslipidemias and coronary artery diseases. In order to investigate the role and relevance of this polymorphism in Northwest India, the present study aimed to investigate the genetic variation of 3' untranslated region of APOC3 (SstI) in 312 individuals belonging to four endogamous groups (Banias, Brahmins, Jatsikhs and Khatris) of Punjab. Uncommon *S2 allele frequency was 22.6%, 22.5%, 22.7% and 26.2% in Banias, Brahmins, Jatsikhs and Khatris respectively. Higher heterozygosity of 0.39 in Khatris reflected their greater variation at this locus than the other populations. Chi-square analysis did not reveal any significant differences between these populations and other studies from North India ( P > 0.05). Comparative analysis of 66 other populations across the world revealed large heterogeneity at this locus whereby, Mongoloid populations have the highest frequencies of *S2 allele (0.19 to 0.48) followed by Indians (0.18 to 0.29), Africans (0.04 to 0.27) and Caucasian populations (0.01 to 0.12). Genetic distance and multivariate analyses showed that Indian population is quite distinct from other Caucasian and Oriental populations. Clinal heterogeneity of predisposing *S2 allele in Asia showed an increasing cline (y = 0.0043x + 0.1209, R2 = 0.1162) towards North. As this allele is associated with HTG and other cardiovascular complications, differential variation in different populations may have insightful implications for association and medical genetic studies.
TL;DR: This review is to evaluate epidemic relationship between plasma homocysteine and MTHFR gene polymorphism in cardiovascular disease and is based on published data from different parts of world and from Indian sub-continent.
Abstract: The strongly rising prevalence of chronic diseases in most of the developing & developed countries causes major problems in the health systems. High blood cholesterol caused by high fat consumption...
TL;DR: The various lineages of macrohaplogroup N observed in India shows least affiliation with respect to language, geography or ethnicity, however, between the regions, there is a wide variation of sub Haplogroups of R and U.
Abstract: KEYWORDS Mitochondrial DNA diversity; macrohaplogroup N; haplogroup R; sub-haplogroup U; Indian populations ABSTRACT Indian populations show mitochondrial DNA macrohaplogroups M and N. Among the various haplogroups of N, haplogroup R and its sub-haplogroup U are predominant among the diverse populations. An overview of about 130 studied populations reveals wide diversity of haplogroup R and its sub-haplogroup U among varied ethnic status and different linguistic families. The various lineages of macrohaplogroup N observed in India shows least affiliation with respect to language, geography or ethnicity. However, between the regions, there is a wide variation of subhaplogroups of R and U; western region among the castes and southern region among the tribes show higher haplogroup diversity than the other regions.
TL;DR: Curcumin was proved as a protective agent against Ni and Cr induced genotoxicity at two different exposure intervals with a single dose and the amelioration of this toxicity using curcumin.
Abstract: KEYWORDS Acrocentric association; telomeric association; C-anaphase; nickel; chromium; curcumin; blood cultures ABSTRACT Tanners, welders and workers in various industries are exposed to acute and chronic toxicity of these heavy metals world wide. The present work is undertaken to evaluate the genotoxic effects of Ni and Cr at two different exposure intervals with a single dose and the amelioration of this toxicity using curcumin. Ni in form of nickel chloride (4.216 X 10 -5 M) and Cr as potassium dichromate (1.36 X 10 -6 M) were exposed for 24 and 69 hours to human blood lymphocyte cultures. The genotoxicity was measured by changes in acrocentric and telomeric association and C-anaphase. Results revealed a significant positive correlation between DNA damage and exposure time in Ni and Cr added cultures alone. Likewise it was also observed in cultures with combination of both pro-oxidants. Groups supplemented with curcumin (3.87 X 10 -7 M) showed insignificant cytogenetic damage indicating its protective role which was calculated as percentage amelioration. Thus these data proved curcumin as a protective agent against Ni and Cr induced genotoxicity.
TL;DR: Two of the common ¦α mutations have been detected either in heterozygous or homozygous states in significant frequencies, so patients coming for Hb Electrophoresis and carrier detection should be also checked the alpha status through specific DNA studies.
Abstract: Haemoglobinopathies and different forms of thalassaemias including alpha thalassaemia has been found to be as high as 10% in Eastern India. The alpha globin disorders are less commonly reported because the diagnosis of alpha thalassaemia is usually missed unless in the severe homozygous form or as Hb Barts. But presence of alpha gene has been found in cases of unexplained anaemias and also in several suspected cases having ¦α mutations and other common haemoglobinopathies. Two of the common ¦α mutations (-¦α3.7, ¦α4.2) have been detected either in heterozygous or homozygous states in significant frequencies, so patients coming for Hb Electrophoresis and carrier detection should be also checked the alpha status through specific DNA studies.
TL;DR: It is found that variation within populations is lower in India than in East Asia, while variation betweenpopulations is overall higher, and the caste system has had a detectable impact on Y-chromosomal variation.
Abstract: We have analysed Y-chromosomal data from Indian caste, Indian tribal and East Asian populations in order to investigate the impact of the caste system on male genetic variation. We find that variation within populations is lower in India than in East Asia, while variation between populations is overall higher. This observation can be explained by greater subdivision within the Indian population, leading to more genetic drift. However, the effect is most marked in the tribal populations, and the level of variation between caste populations is similar to the level between Chinese populations. The caste system has therefore had a detectable impact on Y-chromosomal variation, but this has been less strong than the influence of the tribal system, perhaps because of larger population sizes in the castes, more gene flow or a shorter period of time.
TL;DR: To understand the molecular epidemiology and role of cofactors in alcoholism the standard phenotype-genotype correlation may be a useful tool.
Abstract: KEYWORDSFamily studies; twin studies; adoptee; candidate genes; case-control studies; linkage studies; SNPs; GABA; Dopamine system; CYP2E1; Alcohol dehydrogenase ABSTRACT Alcoholism is an extremely complex disease for which no generally accepted definition exists. There is a complex interaction between the socio-environmental context, the individual at risk, and the availability of alcohol. The result of family, twin and adoption studies suggest a significant genetic predisposition to the disease. Identifying novel genetic risk factors for common diseases is a global challenge in the post genomic era. Recent molecular genetic research into the causes of alcoholism has drawn attention to the potential role of alcohol and acetaldehyde metabolizing enzymes. Functional polymorphisms have been observed at various genes encoding these enzyme proteins that act as one of the biological determinants significantly influencing drinking behavior and the development of alcoholism and alcohol-induced organ damage. Most ethanol elimination occurs by alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH) systems via oxidation of ethanol to acetaldehyde and acetic acid. However, the legacy of alcoholism among certain ethnic groups suggests that genetic factors can increase an individual's vulnerability for this disease. An association study in patient cohorts and controls, from large populations involving whole genome scans, is the preferred approach for complex traits. To understand the molecular epidemiology and role of cofactors in alcoholism the standard phenotype-genotype correlation may be a useful tool. The present paper reviews various aspects of alcoholism including both the behavioural and molecular etiologies.
TL;DR: In this article, an attempt was made to assess utility of chromosomal instability in peripheral blood lymphocytes of first-degree relatives of sporadic gastrointestinal tract (GIT) cancer patients for genetic surveillance.
Abstract: The present study was an attempt to assess utility of chromosomal instability in peripheral blood lymphocytes of first-degree relatives (FDR) of sporadic gastrointestinal tract (GIT) cancer patients for genetic surveillance. Standard lymphocyte culture technique was used for the purpose. Cultured peripheral blood lymphocyte metaphases were scored for aberrations in 10 sporadic cases of GIT cancer patients (6-esophageal, 1-gastric, 2-rectum and 1-cecum), 10 first-degree relatives and 10 healthy unrelated controls. There were significantly increased number of aberrations in cancer patients as compared to FDRs and controls. A perceptible increase in the level of metaphases with structural aberrations, including gaps, breaks, rings, centromeric separation and terminal deletions, was observed in first-degree relatives of cancer patients as compared to healthy unrelated controls taken from the same geographical area. There was high frequency of aberrations, mainly structural aberrations, involving specific chromosomes in firstdegree relatives and in cancer patients. Majority of aberrations were at chromosomal loci harboring genes involved directly or indirectly in tumorigenesis, thus indicating the probability of a constitutional chromosomal instability in first-degree relatives of even sporadic GIT cancer patients.
TL;DR: In spite of having heavy exposure to the carcinogens due to tobacco chewing and bidismoking, regular tea drinking is decreasing the risk of developing cancer to very little extent.
Abstract: KEYWORDS Micronuclei; oral carcinoma; leukoplakia; CYP; GSST; polymorphism ABSTRACT Individual cancer susceptibility is the result of several host factors, including differences in life-style habits and genetic susceptibility. There is a correlation between CYP1A1 polymorphism ( Msp I) and oral cancer susceptibility. Individuals carrying the deletions of GSTM1 and GSTT1 are at high risk of developing oral cancers. Again an increased risk of oral carcinoma is indicated by an increased micronuclei frequency. In the present study on tribal and non-tribal population of Assam, CYPm2m2 genotypes were found in about 14.05% cases having leukoplakia and other oral problems. In the same cases GSST null genotypes were found to be 24.35%. In comparison to the controls the micronuclei frequencies were found to be one fold increased for the cases. In spite of having heavy exposure to the carcinogens due to tobacco chewing and bidi smoking, regular tea drinking is decreasing the risk of developing cancer to very little extent.
TL;DR: The absence of YAP insertion element in the present Ahmadiyya population has suggested that this isolated population is not likely to have been affected by many migrations in Indian history.
Abstract: The blood samples of 66 Ahmadiyya Muslim males from Qadian, district Gurdaspur of Punjab have been analysed to study the Y-chromosome Alu insertion polymorphism (YAP). Y-chromosomes carrying the YAP element were found in many populations in India and Pakistan. However, the absence of YAP insertion element in the present Ahmadiyya population has suggested that this isolated population is not likely to have been affected by many migrations in Indian history.
TL;DR: The first report on HLA DRB1 allele associations from Western Indian HBV infected patients indicates that there is a complexity of genetic susceptibility to HBV infection in different populations studied and reported.
Abstract: Abstract Chronic hepatitis B virus (HBV) infection is one of the most common infectious diseases and leads to high morbidity and mortality due to the development of liver cirrhosis and hepatocellular carcinomas. We have analyzed the HLA DRB1 allele associations among 26 clinically definite western Indian chronic hepatitis B infected patients and compared them with 31 ethnically matched clinically normal individuals. HLA DRB1 alleles were defined molecularly using commercial low-resolution DRB1polymerase chain reaction sequence specific priming kit. The study revealed a significant increase of DRB1*15 (57.69% vs 24.19%; OR= 4.27; EF= 0.44; P value 0.0002) allele as well as a significant decrease of DRB1*13 (0% vs 11.29%; P value 0.012), DRB1*04 (0% vs 6.45%; P value 0.062) and DRB1*14 (5.76% vs 16.12%; OR= 0.318; PF= 0.10; P value 0.08) alleles when compared to the controls. This is the first report on HLA DRB1 allele associations from Western Indian HBV infected patients. Further our study indicates that there is a complexity of genetic susceptibility to HBV infection in different populations studied and reported.
TL;DR: Statistically non-significant differences were observed for the gaps, break and satellite associations, whereas values for total aberrations were found to be statistically significant among Meos and Sunni Muslims.
Abstract: Cytogenetic assays in peripheral blood lymphocytes (PBL) have been done to assess the incidences of chromosomal aberrations among Meos and Sunni Muslims of Haryana. Baseline frequencies of chromosome aberrations (CA) were assessed in 28 subjects from each cast. The mean frequency of chromosomal gaps in Meos was found to be 0.786 ± 0.686 and the frequency of chromosomal break was 0.429 ± 0.504. Mean frequency of the satellite association in Meos was found to be 1.357 ± 1.821. Among the Sunni Muslims the mean frequency of chromosomal gaps was found to be 1.250 ±0.701 and the frequency of chromosomal breaks was 0.643 ± 0.488. Mean frequency of satellite in Sunni Muslims was found to be 1.250 ± 1.435. Statistically non-significant differences were observed for the gaps, break and satellite associations, whereas values for total aberrations were found to be statistically significant among Meos and Sunni Muslims. The mean values for chromosomal aberrations and satellite associations were higher in Sunni Muslims (1.893) than in Meos (1.214).