摘要
目的：本研究对４０例肝豆状核变性（又称Ｗｉｌｓｏｎ病，ＷＤ）病人的外显子１４及１８进行ＤＡＮ测序分析，并比较突变类型与临床表现的关系。方法：提取ＤＡＮ，ＰＣＲ，ＤＮＡ直接测序分析。统计学处理应用ｔ和ｘ２检验。结果：１５例病人在外显子１４或１８上有点突变，其中１０例为Ｈｉｓ１０７０Ｇｌｎ，１例为Ｇｌｕ１０６５Ａｌａ，４例为Ｇｌｙ１２４３Ｇｌｕ。１０例Ｈｉｓ１０７０Ｇｌｎ突变者发病年龄（２１．２±６．３岁）较其它３０例ＷＤ病人（１３．７±５．４岁）晚（ｔ＝８．３２，Ｐ＜０．００１），且前者肝脏病变的发生率（２／１０）较后者（２４／３０）低（ｘ２＝１３．８５，Ｐ＜０．００５）。结论：Ｈｉｓ１０７０Ｇｌｎ为一常见突变类型且病人发病晚，少有肝脏病变，提示Ｈｉｓ１０７０Ｇｌｎ突变尚未完全破坏运铜蛋白的结构及功能，临床表现与基因突变的位点有关。
Objective:We analysed 40 Wilson disease(WD)patients for Exon 14 and Exon 18 and corrolated the matation with age and symptoms analyzcd by t,x 2 test.Results:15 patients had missense mutations,in which ten patients had His 1070 G In mutation,onc patient had Glu1065 Ala mutation and 4 patients had Gly1243 GLu mutation.The patients with His 1070 Gin had later age(21.2±6.3years)onset of the symptoms than another 30 patients(13.7±5.4years)(t=8.32, P <0.001).Otherwise,the former had less frequent liver disease(2/10)than the latter(24/30)(x 2=13.85, P <0.005).Conclusion:The patients with His1070Gln which is the most frequent mutation in Exon 14 present later onset of symptoms and less liver disease onset.This suggests His1070Gln represents a relatively mild mutation,possible with some residual function in the copper transporting protein.There may be a correlation between mutation and phenotype.
出处
《中国优生与遗传杂志》
1999年第4期8-9,共2页
Chinese Journal of Birth Health & Heredity
关键词
肝豆状核变性
基因
DNA
突变
Wilson disease,Gene,DNA, Mutation. (Original article on page 8)
