Anticipation (genetics)

About: Anticipation (genetics) is a research topic. Over the lifetime, 669 publications have been published within this topic receiving 21784 citations. The topic is also known as: Genetic Anticipation & Anticipation, Genetic.

The age of onset of schizophrenia and the theory of anticipation.

Abstract: The clinical phenomenon called anticipation is usually defined as a decrease in age at onset and/or an increase in disease severity in successive generations of afflicted families. The purpose of this study was to examine variables that might influence anticipation in schizophrenia. A total of 380 Austrian patients, born between 1935 and 1964, met criteria for schizophrenia with ICD-8 or ICD-9, SADS-L and DSM-III-R criteria. The inclusion criteria also required medical records of patients to contain information about the year of birth, season of birth, age at onset, accidents or meningoencephalitic diseases during childhood, first- and second-degree relatives afflicted with schizophrenia, sibship size, sib order, education of patient, age of parents, occupation of parents, loss of parents, and place of residence. A Cox multiple-regression analysis showed three factors as having a significant influence on the age of disease onset, including year of birth (which had the largest influence), family history (sporadic cases showed an onset 2 years later than familial cases) and residence (urban dwellers showed psychotic symptoms approximately 1 year sooner than rural ones). A Kaplan–Meier Survival Analysis showed that younger cohorts had onset approximately 10 years earlier in sporadic and familial cases. This cohort effect might be a major source of bias in studies of anticipation.

Treatment of acute asthma in children.

Abstract: Summary Acute severe asthma in children should be managed by immediate attention to the patient's clinical condition. Careful observation, the use of sequential pulmonary function tests and appropriate blood gas studies will facilitate evaluation of severity. Therapy should be directed at the reversal and7sol;or correction of these abnormalities as well as anticipation of early treatment of potential complications. By the aggressive management of this condition, the incidence of complications can be reduced, the length of hospital stay shortened and substantial morbidity and possible mortality minimized.

Triplet repeat gene sequences in neuropsychiatric diseases.

Abstract: The human genome has many nucleotide repeat sequences. These range from a single repeating base to entire duplicated genes. Expansion of repeating triplets of nucleotides in the genome has recently been associated with nine degenerative and developmental neuropsychiatric diseases: fragile X syndrome, fragile X-linked mental retardation, myotonic dystrophy, Friedreich's ataxia, spinal and bulbar muscular atrophy, Huntington's disease, spinocerebellar ataxia type 1, dentatorubral-pallidoluysian atrophy, and Machado-Joseph disease. These diseases are all conditions of the central nervous system; in all of them, the inheritance pattern usually exhibits the phenomenon of anticipation (defined as progressively earlier age of onset or a worsening disease severity over successive generations), and the severity of the phenotypic expression and penetrance appears to be related to the extent of the triplet expansion. Identification of this pathological genetic phenomenon solves several of the mysteries that surround...

Genotype/phenotype correlation in a SCA1 family: anticipation without CAG expansion.

Abstract: We report on a family with spinocerebellar ataxia type 1 (SCA1), in which the age at onset and the severity of the disease do not correlate with the number of CAG repeat units. Although a marked anticipation was observed in the proband, it was not a consequence of an expansion of the CAG tract. None of the expanded alleles contained CAT interruptions. The pathologic expansion in this family was stable during the paternal but not maternal transmission, where it expanded by one trinucleotide and unexpectedly did not lead to anticipation. Our observations suggest that factors other than the length of the CAG repeat play a considerable role in determination of the disease course.

Anticipation phenomenon in familial adenomatous polyposis:an analysis of its origin.

Abstract: AIM:To analyze the origin of the anticipation phenomenon, which means earlier death in successive generation in familial adenomatous polyposis.METHODS:The study subjects were 2161 patients with familial adenomatous polyposis and their 7465 first degree relatives who were members of 750 families registered at our Polyposis Registry. The ages at death and cumulative mortality rates in theparent, the proband, and the child generations were compared for both all subjects and the patients alone.RESULTS:In the patients over 5 years of age, the mean age at death was 50.9 years for the parent, 42.3 years for the proband, and 33.3 years for the child generations, respectively a(c)(P < 0.001). The deceased rates in the three generations were 90.7%, 51.3% and 23.1% of the patients, respectively, and this difference was the main cause of the anticipation measured by parent-child paring method. The cumulative mortality rates for all subjects failed to show anticipation, however the cumulative mortality rates for the patients showed the anticipation. The anticipation phenomenon was shown by any parent-child pairing methods for the deceased patients. Other important causes of the anticipation were different proportion of causes of death between generations a(c)(P <0.001), and a low proportion of detected or deceased patients (P < 0.001) in the child generation.CONCLUSION:Anticipation in familial adenomatous polyposis may be caused by parent child paring methods as well as several intergenerational biases.