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中国南方汉族群体MPSI型Kpn I酶切位点的遗传多态性 |
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郭奕斌 光炜 杜传书 林群娣
摘要:为研究中国汉族群体IDUA 基因Kpn I 酶切位点的遗传多态性以及该位点等位基因片段传递的规律, 采用PCR-RFLP技术, 对162例无血缘关系的健康中国汉人的324条 染色体进行检测，另又对5个家系16位成员进行同样的检测，然后用χ2检验进行统计学处理。结果表明,等位基因A1 频率为0.17，等位基因A2 频率为0.83，杂合率为29%；A1 、A2 的传递规律与理论上预计的完全符合。认为中国汉族群体IDUA 基因 Kpn I 酶切位点也具有遗传多态性, 并且与国外报道的无显著性差异；A1、A2 在世代中的传递完全符合孟德尔遗传规律。
关键词:粘多糖贮积症I型;IDUA 基因;多态性;限制性片段长度;聚合酶链反应
中图分类号:Q987.2
文献标识码:A
文章编号:0253-9772(1999)05-0017-19
RFLP of a KpnISite in the α-L-iduronidase(IDUA) Gene in
Mucopolysaccharidosis Type I of Chinese Southern Han Population
GUO Yi-bin,GUANG Wei,DU Chuan-shu,LIN Qun-di
(Department of Medicial Genetics,Sun Yat-sen University of Medical Sciences,Guangzhou510089China)
Abstract:To investigate the genetic polymorphism of the Kpn I site in the α-L-iduronidase(IDUA) gene from a Han population in southern China and to study the mode of transmission of alleles, PCR-RFLP was used to analyze 324 chromosomes from 162 Chinese unrelated healthy Han individuals, and the analysis of the genotypes of 16 members in five families. To compare the frequencies and heterzygosity between Chinese Han population and Caucasians in Western by using χ2test. The frequency of allele 1 (450bp) was 0.17，allele 2 (390 plus 60 bp) 0.83, the heterozygosity was 29% . The genotypes of each member of all families detected was completely agreement with the theorical assessment. The locus of Kpn I in the IDUAgene from Han population has polymorphism. There is no significant difference between Chinese Han population and Caucasians in Western countries. The transmission of alleles was agreement with the Mendelian genetic law.
Key words:Mucopolysaccharidosis I;IDUAgene;Polymorphism;Restriction fragment length;PCR
粘多糖贮积症I型(MPS I)是一类由于α-L-艾杜糖醛酸酶(IDUA)缺乏， 导致患儿发育障碍、智力低下、骨骼畸形、脏器肿大的遗传性溶酶体病。编码此酶的IDUA 基因的 第3外显子和部分第2、3内含子区域内的Kpn I位点具有广泛的多态性〔1〕，且该多态可用于MPS I 和慢性进行性舞蹈病的临床诊断〔1, 2〕。由于MPS IH型对患儿的危害很大(常活不到[1] [2] [3] 下一页
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