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显性遗传性聋─大家系研究

Dominant hereditary deafness

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【作者】 郭汉璧谭震涛林敏孙玉洁

【Author】 Guo Han-bi;Tan Zhen-tao;Lin Min;Sun Yu-jie(Department of Biology,Nanjing Medical College)

【机构】 南京医学院生物学教研室

【摘要】 本文报告江苏省淮阴县运南地区方氏家族六代683人的系谱、皮纹学、染色体和ABO血型等遗传学方法的调查与检测,确定属常染色体显性遗传性聋患者137例。经检索这是我国首例显性遗传性聋大家系,亦是国际上的第三例聋人大家系的报告。

【Abstract】 The hereditary data of dermatoglyphics, chromosome and the ABO blood type of a large family with 683 members in 6 generations in Huaiyin county,Jiangsu province are investigated and reported in this article. The pedigree rveals that 137 cases 20.06%)are autosomal dominantinheritance with a penetrance of 79.1% . Regarding the last 3 items, except the number and structure of the chromosome which have not shown any abnormal,more than half of the parameters of the dermatoglyphic analysis, SCE examination and the ABO blood group investigation, as compared with the contrast group, statistically significant or highly significant differences are observed.This is the first case of a large family’s dominant hereditary deafness and is the third in the world.However, the works on the last 3  ̄items so far have not yet been reported.

  • 【文献出处】 中国优生与遗传杂志 ,CHINESE JOURNAL OF BIRTH HEALTH & HEREDITY , 编辑部邮箱 ,1994年02期
  • 【分类号】R722.11
  • 【被引频次】2
  • 【下载频次】24
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