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Showing papers in "Human Heredity in 1988"


Journal ArticleDOI
TL;DR: Genetic polymorphism of orosomucoid (ORM1) was studied by isoelectric focusing in conscripts and blood donors from the counties of Norrbotten and Vasterbotten in northern Sweden.
Abstract: Genetic polymorphism of orosomucoid (ORM1) was studied by isoelectric focusing in 3,817 conscripts and blood donors from the counties of Norrbotten and Vasterbotten in northern Sweden. The individuals

98 citations


Journal ArticleDOI
TL;DR: In most families with AD or AR inheritance, each family displayed a characteristic manifestation of either hypoplastic or hypomineralization defects, and in families with X-linked inheritance, the clinical manifestation differed between females and males with males more seriously affected.
Abstract: The mode of inheritance and the clinical manifestations of amelogenesis imperfecta (AI) were studied in 51 families from the county of Vasterbotten, northern Sweden. Autosomal dominant (AD) was the most probable mode of inheritance in 33 families, but X-linked dominant (XD) inheritance was a possible alternative in one family. Autosomal recessive (AR) inheritance was found likely in 6 and X-linked recessive inheritance in 2 families. Ten probands were sporadic cases. In the families with AD inheritance, a sex difference was observed between affected and non-affected cases, with an excess of females in the affected group (p less than 0.05). In addition to the 78 index cases, 107 new cases were diagnosed. The clinical manifestations of AI observed could be divided into 2 forms, the hypoplastic form in 72% and the hypomineralization form in 28% of the individuals. AD inheritance was seen in 89% of the cases with the hypoplastic form, and in 44% of the cases with the hypomineralization form. In most families with AD or AR inheritance, each family displayed a characteristic manifestation of either hypoplastic or hypomineralization defects. In 3 families, both hypoplastic and hypomineralization forms of AI were seen. In families with X-linked inheritance, the clinical manifestation differed between females and males with males more seriously affected.

86 citations


Journal ArticleDOI
TL;DR: The apolipoprotein A-IV (apoA-IV) allele frequencies were determined in 387 adult Finns by immunoblotting after isoelectric focusing of serum by determining the phenotypes of 147 mother-child pairs in accordance with the two allelic modes of inheritance.
Abstract: The apolipoprotein A-IV (apoA-IV) allele frequencies were determined in 387 adult Finns by immunoblotting after isoelectric focusing of serum. The gene frequencies were: A-IV1 = 0.942 and A-IV2 = 0.058. The phenotypes of 147 mother-child pairs studied were in accordance with the two allelic modes of inheritance. In 2 subjects, a rare apoA-IV variant was found.

77 citations


Journal ArticleDOI
TL;DR: Haptoglobin groups were determined in 182 patients with primary ovarian carcinoma and a significant excess of HP2-1 was observed among patients with a family history of cancer.
Abstract: Haptoglobin groups were determined in 182 patients with primary ovarian carcinoma. Previously reported associations could not be confirmed. A significant excess of HP2–1 was observed among patients with a family history of cancer.

63 citations


Journal ArticleDOI
TL;DR: It is speculated that Hb beta E in the Tibeto-Burman populations of Assam arose by an independent mutation which contributed to the high frequencies of HbBetaE in the Northeast Indian populations.
Abstract: Previous studies have reported a high incidence of hemoglobin E (HbE) in Northeast Indian populations. In the present study 10 endogamous populations of Assam belonging to two racial groups, Caucasoid and Mongoloid, were examined. The frequency of HbE gene (Hb βE) in the Caucasoid caste populations is around 0.1, whereas the gene is highly prevalent in the Mongoloid populations, frequencies ranging between 0.2 and 0.6. Predominance of Hb βE in the Tibeto-Burman speakers is contrary to observations made in Southeast Asia, where an association between Austro-Asiatic speakers and high prevalence of HbE exist. The highest occurrence of the gene in this area, which is on the far end of the proposed centre of distribution in Northern Kampuchea and Northeast Thailand, is also a deviation from the expected pattern of gene distribution. It is speculated that Hb βE in the Tibeto-Burman populations of Assam arose by an independent mutation which contributed to the high frequencies of Hb βE in the Northeast Indian populations.

52 citations


Journal ArticleDOI
TL;DR: A simple method for the preparation of lymphoblastoid cell lines from small amounts (100 microliter) of frozen whole blood is described, and a success score greater than 90% was obtained for EBV transformations using blood samples which had been collected several months before the infection.
Abstract: A simple method for the preparation of lymphoblastoid cell lines from small amounts (100 microliter) of frozen whole blood is described A success score greater than 90% was obtained for EBV transformations using blood samples which had been collected several months before the infection Due to the simplicity of the technique, up to 80 samples could be processed per day This technique was used to prepared 242 permanent cell lines from 13 large families from Reunion Island showing blood group H deficiency These cell lines are now available for genetic studies

51 citations


Journal ArticleDOI
TL;DR: Polymorphism of alpha 2-HS-glycoprotein (AHSG) was revealed in human urine by isoelectric focusing and immunoblotting on polyacrylamide gels and correct AHSG typing of the urine samples was achieved, in comparison with the results of direct grouping for plasma.
Abstract: Polymorphism of α2-HS-glycoprotein (AHSG) was revealed in human urine by isoelectric focusing and immunoblotting on polyacrylamide gels. More than 200 urine samples were examined in this manner and correct AHSG typing of the urine samples was achieved, in comparison with the results of direct grouping for plasma. Three phenotypes, AHSG 1,2–1 and 2, were observed and found to be determined by two common alleles, AHSG*! and AHSG*2. The frequencies of AHSG*l and AHSG*2 calculated in a Japanese population were 0.7637 and 0.2363, respectively.

41 citations


Journal ArticleDOI
TL;DR: Serum protein markers were studied in a series of 36 patients with systemic lupus erythematosus and compared to normal blood donors and a significant increase of complement C4 deficiency was found among the SLE patients.
Abstract: Serum protein markers (α1-AT, Bf, C3, C4A, C4B, Hp and Tf) were studied in a series of 36 patients with systemic lupus erythematosus (SLE) and compared to normal blood donors. In agreement

40 citations


Journal ArticleDOI
TL;DR: Haptoglobin and transferrin (TF) types were determined for 134 patients with leukaemia of the four most common types and indicated a significantly increased frequency of TF C1C1 amongLeukaemia patients compared with controls.
Abstract: Haptoglobin and transferrin (TF) types were determined for 134 patients with leukaemia of the four most common types: acute lymphocytic (ALL), chronic lymphocytic (CLL), acute myelocytic (AML) and chronic myelocytic leukaemia (CML). The phenotype HP1 was found to have an increased incidence in the total patient group due to an increased incidence in those with AML, ALL and CML compared with controls, but not in those with CLL. Although tests of association applied to each of the samples of the four common types of leukaemia produced no significant chi 2 values, they did indicate that the relative incidence (RI) was just under 2 for the groupings of the acute forms ALL and AML, the myelocytic forms AML and CML and for the combination of ALL, AML and CML, respectively. All these associations were statistically significant (p less than 0.05). Analysis of TF subtypes and leukaemia indicated a significantly increased frequency of TF C1C1 among leukaemia patients compared with controls (p less than 0.005). Analysis of the samples of each of the four common types suggested that while the RI was raised in all but ALL patients, the association was significant only in AML patients (p less than 0.05). However, when the two myelocytic types were combined the RI was 2.3 and the association was highly significant (p less than 0.005). No such association could be detected in the lymphocytic forms.

32 citations


Journal ArticleDOI
TL;DR: The hypothesis that the Berbers are native to North Africa and their ancestors, the first modern man (Homo sapiens) of North Africa, were the founders of the European populations is supported.
Abstract: Blood samples from 120 Tunisian Berbers of Gallala village were typed for Gm and Km immunoglobulin allotypes, alpha-1-antitrypsin variants and ABO blood groups. The results were compared with those of

28 citations


Journal ArticleDOI
TL;DR: The presence of the rare Lewis phenotype Le(a+b+) is reported in various Polynesian groups, including Maoris, Samoans, Cook Islanders, Nuieans and Tokelau Islanders and showed no correlation with age or sex.
Abstract: The presence of the rare Lewis phenotype Le(a+b+) is reported in various Polynesian groups, including Maoris, Samoans, Cook Islanders, Nuieans and Tokelau Islanders. The phenotype was found in Polynesians of all blood groups and the frequency was significantly increased in group 0 persons. The phenotype was not significantly associated with H reactivity in group A donors and showed no correlation with age or sex.

Journal ArticleDOI
TL;DR: Complement C4 phenotype distribution was studied in 64 patients with dementia of the Alzheimer type and failed to find a significant association between C4B2 gene frequency and Alzheimer's dementia.
Abstract: Complement C4 phenotype distribution was studied in 64 patients with dementia of the Alzheimer type. In contrast to reported findings we failed to find a significant association between C4B2 gene frequency and Alzheimer's dementia.

Journal ArticleDOI
TL;DR: The distribution of phenotypes of alpha-1-antitrypsin (Pi) in 1,062 unrelated Swedes was determined by isoelectric focusing with carrier ampholytes by determining the frequencies of mother-child material consisting of 194 pairs.
Abstract: The distribution of phenotypes of alpha-1-antitrypsin (Pi) in 1,062 unrelated Swedes was determined by isoelectric focusing with carrier ampholytes. The frequencies calculated were: PiM1 = 0.6940, PiM2 = 0.1384, PiM3 = 0.1139, Piz= 0.0231, Pis = 0.0245, PiF = 0.0038, Pivar = 0.0024. A mother-child material consisting of 194 pairs is also presented.

Journal ArticleDOI
TL;DR: DNA haplotypes and frameworks associated with the beta-globin gene were determined in a Tibeto-Burman group, the Kachari, from Upper Assam, India, using restriction analysis at eight restriction sites to favor a common origin of the HBB*E gene in Southeast Asia and Assam.
Abstract: DNA haplotypes and frameworks associated with the β-globin gene were determined in a Tibeto-Burman group, the Kachari, from Upper Assam, India, using restriction analysis at eight restriction sites. O

Journal ArticleDOI
TL;DR: It appears that APO C-II*2 is a unique black marker of potential importance in anthropogenetic and atherosclerosis studies.
Abstract: Using a simple and rapid one-dimensional isoelectric focusing technique followed by immunoblotting, we have detected genetic polymorphism of human apolipoprotein C-II (APO C-II) in normal unfractionated plasma samples of individuals of black ancestry. Two common autosomal codominantly expressed alleles, designated APO C-II*1 and APO C-II*2, at the APO C-II structural locus have been observed with frequencies of 0.975 and 0.025 in US blacks and 0.943 and 0.049 in Nigerian blacks. In addition, the gene product of a rare allele designated APO C-II*3 was observed in a single Nigerian black. Apart from a single example of an APO C-II 2-1 phenotype in plasma samples from 187 whites, which was electrophoretically identical to the 2-1 phenotype observed in blacks, it appears that APO C-II*2 is a unique black marker of potential importance in anthropogenetic and atherosclerosis studies.

Journal ArticleDOI
TL;DR: The frequency of glucose-6-phosphate dehydrogenase deficiency in the male and female population of Al-Ula in the northwestern province of Saudi Arabia is reported.
Abstract: This paper reports the frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the male and female population of Al-Ula in the northwestern province of Saudi Arabia. The frequency of G6PD

Journal ArticleDOI
TL;DR: Compared with a previous report on alpha-thalassemia in northern Thailand which was based on the determination of hemoglobin Bart's in cord blood, the present DNA study reveals a similar frequency of alpha-globin genes on one chromosome but a considerably lower frequency ofalpha-thalassesmia-1.
Abstract: The frequency of alpha-thalassemias in northern Thailand was estimated using DNA techniques. Among 106 healthy adult Thais from the Chiangmai area, 28 were shown to carry alpha-globin gene anomalies. There were 19 heterozygotes and 1 homozygote for alpha-thalassemia-2. One of the alpha-thalassemia-2 deletions was of the -alpha 4.2 type and the remaining 20 of the -alpha 3.7 type (subtype I). Deletions of both alpha-globin genes on one chromosome (alpha-thalassemia-1) of the Southeast Asian type were observed in 5 cases, and 3 alpha-globin gene triplications were identified. Compared with a previous report on alpha-thalassemia in northern Thailand which was based on the determination of hemoglobin Bart's in cord blood, the present DNA study reveals a similar frequency of alpha-thalassemia-2 but a considerably lower frequency of alpha-thalassemia-1.

Journal ArticleDOI
TL;DR: A comparison between women with normal and complicated obstetric histories revealed a statistically significant associations between the Pl1 alleles and higher survival rate of the fetus.
Abstract: Placental alkaline phosphatase types were studied in 435 samples from Punjab (India). A comparison between women with normal and complicated obstetric histories revealed a statistically significant associations between the PI1 alleles and higher survival rate of the fetus. The Pl2 and Pl3 alleles were found to be associated with higher rates of fetal loss and various complications of pregnancy.

Journal ArticleDOI
TL;DR: A series of 150 patients with serum hepatitis were examined for the incidence of the Australia antigen and associations with ABO blood groups, haptoglobin types and occurrence of intestinal serum alkaline phosphatase and the frequency of the Hp1 gene was significantly increased.
Abstract: A series of 150 patients with serum hepatitis were examined for the incidence of the Australia antigen (HBsAg) and associations with ABO blood groups, haptoglobin types and occurrence of intestinal serum alkaline phosphatase. Among the patients studied 11.3% were positive for HBsAg. When compared to controls patients with blood group 0 showed a significantly increased risk for serum hepatitis (p 1 gene was significantly increased (p

Journal ArticleDOI
Kazuo Umetsu1, I Yuasa, H Nishimura, H Sasaki, Tsuneo Suzuki 
TL;DR: Compared with the Japanese population, the Philippine population has higher frequencies of orosomucoid 1 and A2HS*2, and lower frequencies of ORM1*2.1 and A 2HS*1.
Abstract: A Philippine population was investigated for genetic polymorphism of orosomucoid 1 (ORM1), orosomucoid 2 (ORM2), and alpha-2-HS-glycoprotein (A2HS) by isoelectric focusing. The allele frequencies were: ORM1*1 = 0.7904, ORM1*2 = 0.1687, ORM1*2.1 = 0.0409, ORM2*1 = 1.0000; A2HS*1 = 0.6870, A2HS*2 = 0.3130. Compared with the Japanese population, the Philippine population has higher frequencies of ORM1*1 and A2HS*2, and lower frequencies of ORM1*2.1 and A2HS*1.

Journal ArticleDOI
TL;DR: A human chromosome-specific satellite DNA sequence that has diverged and undergone amplification after the human speciation allows an easy monitoring of the chromosome 3 centromere by in situ hybridization with a nonradioactive probe.
Abstract: Starting from a chromosome-specific DNA library, we have isolated a human chromosome-specific satellite DNA sequence. This sequence of 635 base pairs (bp) consists of 3.7 alpha DNA monomers of 170-171 bp. Under high stringency it hybridizes to the centromere of chromosome 3 in a region composed of 2,750 bp tandem repeats characterized by the regular spacing of Hind III and TaqI restriction enzyme recognition sites. It has diverged and undergone amplification after the human speciation. The amplification allows an easy monitoring of the chromosome 3 centromere by in situ hybridization with a nonradioactive probe.

Journal ArticleDOI
TL;DR: Genotypes identified by two restriction fragment length polymorphisms (RFLPs) of the insulin receptor gene (IRG) with the restriction endonuclease Sst-1 were determined in a Japanese group comprising 51 patients with non-insulin-dependent diabetes mellitus (NIDDM) and 50 control subjects.
Abstract: Genotypes identified by two restriction fragment length polymorphisms (RFLPs) of the insulin receptor gene (IRG) with the restriction endonuclease Sst-1 were determined in a Japanese group comprising 51 patients with non-insulin-dependent diabetes mellitus (NIDDM) and 50 control subjects. Southern hybridization using a probe for the beta subunit of the human IRG identifies 4 alleles, termed S1(+) (5.3 kb), S1(–) (5.8 kb), S2(+) (7.0 and 2.4 kb) and S2(–) (9.4 kb). The frequencies of genotypes possessing the S1(–) allele in Japanese controls and Japanese NIDDM patients were 0.11 and 0.16, respectively. Unlike the previously reported association of the S1(–) allele with NIDDM found in Caucasians there was no significant difference in the frequency of the S1(–) allele between non-diabetic and NIDDM Japanese patients. There was a significant difference in the frequency of the S2(+) allele between Caucasian control subjects (0.14) and Japanese controls (0.0) and NIDDM patients (0.02).

Journal ArticleDOI
TL;DR: The genetic polymorphism of eight red cell enzymes was examined in three samples from Gran Canaria and one from Equatorial Guinea and showed the presence of African genes showed an African admixture estimated to 6-9%.
Abstract: The genetic polymorphism of eight red cell enzymes was examined in three samples from Gran Canaria and one from Equatorial Guinea. The presence of African genes in the Gran Canaria population showed an African admixture estimated to 6-9%. The genetic distance between Gran Canaria and Equatorial Guinea was 0.033, and that between Gran Canaria and the Spanish mainland only 0.007.

Journal ArticleDOI
TL;DR: The group-specific component (Gc) subtypes were determined by isoelectric focusing and immunoblotting and suggest that founder effect and genetic drift are to a large extent responsible for the peculiar gene pool of the original Lapp population.
Abstract: The group-specific component (Gc) subtypes were determined by isoelectric focusing and immunoblotting. The gene frequencies in the Swedish Lapps were Gc1F = 0.412, GcIS = 0.367 a

Journal ArticleDOI
TL;DR: A French population was investigated for genetic polymorphism of α2HS-glycoprotein (A2HS; nomenclature according to Human Gene Mapping 7, Los Angeles, 1983) using isoelectric focusing and immunoblotting, and three variants were observed together with two common alleles A2HS*2, whose frequencies were significantly different from the data in Canadians and Egyptians.
Abstract: A French population was investigated for genetic polymorphism of alpha 2HS-glycoprotein (A2HS; nomenclature according to Human Gene Mapping 7, Los Angeles, 1983) using isoelectric focusing and immunoblotting. Three variants were observed together with two common alleles A2HS 1 and A2HS 2, whose frequencies were significantly different from the data in Canadians and Egyptians. An anodal variant to A2HS 1 was identical to a variant with two different nomenclatures reported by three different groups, indicating that there is a confusion in the A2HS nomenclature. The others were new variants with cathodal isoelectric points to A2HS 2 in the native state.

Journal ArticleDOI
TL;DR: The first identification of the cholinesterase variants E1KE1k and E1kE1s is reported from a family study based on the biochemical parameters of enzymic activity, and dibucaine, fluoride and RO2 numbers.
Abstract: The first identification of the cholinesterase variants E1kE1k and E1kE1s is reported from a family study. The e

Journal ArticleDOI
TL;DR: A panel of 897 randomly chosen Danish donors of blood groups O and A was tested for the LKE antigen using a human anti-LKE, and the association of LKE to the P system was confirmed.
Abstract: A panel of 897 randomly chosen Danish donors of blood groups 0 and A was tested for the LKE antigen using a human anti-LKE. In this sample, 78.7% were LKE positive, 20.6% were weakly positive, whereas 0.7% were LKE negative. These phenotype frequencies are similar to those obtained by the first discovered human alloserum and by the monoclonal anti-SSEA-4 in previous studies. The previously reported lower LKE antigen strength in group A versus group 0 donors, and the association of LKE to the P system was confirmed.

Journal ArticleDOI
TL;DR: An isoelectric focusing procedure in an ultranarrow pH range (5.0-5.5) polyacrylamide gel is described for the determination of superoxide dismutase (SOD) phenotypes and the presence of the SOD A 2 unique allele in the Mormons of Utah is compatible with their historical affinity with Scandinavians.
Abstract: An isoelectric focusing procedure in an ultranarrow pH range (5.0–5.5) poly-acrylamide gel is described for the determination of superoxide dismutase (SOD) phenotypes. The occurrence of the rare

Journal ArticleDOI
TL;DR: Family studies in 60 nuclear families showed a significantly higher incidence of endemic goitre among the offspring of affected parents than among the children of normal parents, which suggests a possible genetic predisposition to endemicGoitre.
Abstract: The overall prevalence rate of endemic goitre among the Fur and Baggara tribes of Western Sudan was found to be 74%. Family studies in 60 nuclear families showed a significantly higher incidence of en

Journal ArticleDOI
TL;DR: Restriction fragment length polymorphisms of the L1.28 probe, which is closely linked to X-linked disorders, retinitis pigmentosa and Norrie disease, were studied in samples from England, India and Nigeria.
Abstract: Restriction fragment length polymorphisms of the L1.28 probe which is closely linked to X-linked disorders, retinitis pigmentosa and Norrie disease, were studied in samples from England, India and Nigeria. The frequency of the A2 allele (9-kb fragment) was 0.23, 0.55 and 0.46 in England, India and Nigeria, respectively. The differences between the English and Indian populations were highly significant.