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- W2364650030 abstract "Objective:To investigate the family history of congenital heart disease (CHD) in Chongqing for studying the genetic models in CHD families. Method:The materials of families with more than one CHD patients were collected in the survey, from which maping pedigrees for high-risk families, and analyses of high-risk family were done. The proband as well as the first and second degree relatives filled in a questionaire, the were analyzed. Result: Among 4 387 families in the survey, there were 21 high-risk families in which the disease types among the relative patients were inconsistent with those among the probands, the coincidence is 33.33%(7/21). The prevalence of the first and second degree relatives were 16.49% (16/78), 1.89% (5/265) respectively and the difference was significant (χ 2= 27.73,P 0.01). The inheritance pattern of high-risk CHD was analyzed by Emery AEH segregation analysis. The result was in accordance whith autosomal dominane monogenic inheritance (AD), But the number of sibling was not in the natural state so it was not in; Autosomal recessive inheritance was difficult to be evaluated because of few families remained. Y-linked inheritance mode was not in accordance with the actual investigation, thus sex-linked inheritance can be rejected.Conclusion: The CHD family investigation in Chongqing region doesn't show the regional difference but shows family aggregation. The prevalence of the related is related to the extent of the consanguinity. The higher the extent of the relation to the proband, the higher the prevalence. At the same time, because our investigation were undertaken in the state of single child or twins which are not in accordance with the natural state, it brings new problems to genetic epidemiology and new methods for clinic application are needed." @default.
- W2364650030 created "2016-06-24" @default.
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- W2364650030 date "2004-01-01" @default.
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- W2364650030 title "Primary analysis of family aggregation of congenital heart disease" @default.
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