广东汉族群体粘多糖贮积症Ⅰ型KpnⅠ位点的RFLP

RFLP of a Kpn I in the α?L?iduronidase(IDUA)gene in Mucopolysaccharidosis type I of Guangdong Han Population.

本文对８５ 例无亲缘关系的广东汉人的１７０ 例染色体进行ＩＤＵＡ 基因Ｋｐｎ Ⅰ位点的ＲＦＬＰ研究，结果显示：等位基因Ａ１ 频率为０ ．１８ ，等位基因Ａ２ 频率为０．８２，杂合率为３２％ 。经ｘ２ 检验，证实这些结果与国外报道的无显著性差异。对３个家系１０ 位成员等位基因传递规律的研究结果表明：Ａ１ 、Ａ２ 在世代中的传递完全符合孟德尔遗传规律。

RFLP of a Kpn I in the α?L?iduronidase(IDUA) gene in 170 chromosomes from 85 Guangdong unrelated healthy han?zu individuals was studied.The result shows that the frequency of allele 1 (450bp) 0.18,allele 2(390 plus 60 bp)0.82 and heterozygosity 32%.There is no significant difference between Guangdong Han populaytion and Caucasion one after the test with x 2.The result of studying the mode of transmission to 3 families,16 members demonstrates the transmission of allele 1 and allele 2 from upper generation to lower one tally with the Mendelian Genetic Law.