肝豆状核变性类似杂合丢失现象的报告及可能机制探讨  

Loss of Heterogrogyzosity in a Patient′s Family with Wilson′s Disease and Probable Mechanism

作　　者：马少春[1] 倪星群[2] 徐评议[1] 梁秀龄[1] 

机构地区：[1]中山医科大学附属第一医院神经内科,广东广州510080 [2]中山医科大学法医系物证教研室,广东广州510080

出　　处：《遗传》1999年第4期11-14,共4页Hereditas（Beijing)

基　　金：国家自然科学基金;广东省自然科学基金;高等学校博士点学科专项基金

摘　　要：对３９ 个家系４５ 个病人及６０ 例正常人的 Ａ Ｔ Ｐ７ Ｂ 基因的几个外显子采用８ ～１０ ％ 的非变性丙稀酰胺胶进行 Ｓ Ｓ Ｃ Ｐ 分析， 并对异常者测序 （ 放射自显影） ， 发现一个家系的８ 号外显子上同时存在两个突变 （ Ｃ２２５０ Ｇ 和 Ｇ２２７３ Ｔ） ， 患者属纯合子， 其父为杂合子， 母亲和妹妹为正常， 类似 “杂合丢失现象”。提示在除了肿瘤之外的体细胞遗传病中， 二次突变理论也可能是突变发生的机制之一。Screen for mutation in many exons with 45 Wilson disease patients in 39 Chinese families by SSCP and nucleotide sequence analysis by autoradiograph There are two mutations in exon 8 of a patient′s family: C2250G and G2273T Found in these two mutation points, the patient′s father is a heterozygote, patient′s mother and sister are normal sequences, and patient is a homozygous It just like a loss of heterogyzosity in this family with Wilson disease The patient and her parent′ sibship were confirmed by taternity test with microsatellite vWF SE33 AR and D9S112 The result suggested that Loss of heterozygosity (LOH) is probable mutate mechanism of hereditary disease besides tumor and cancer

关 键 词：杂合丢失 肝豆状核变性 基因突变 

分 类 号：R742.402[医药卫生—神经病学与精神病学]