共济失调毛细血管扩张症

共济失调毛细血管扩张症(Ataxia-telangiectasia简称AT）又称Louis-Bar综合征,是累及神经、血管、皮肤、网状内皮系统、内分泌等的原发性免疫缺陷病,也是一种染色体不稳定综合征,亦有人将之归为DNA修复缺陷病,属常染色体隐性遗传。国外统计本病发病率约1/40,000,由此估测人群中杂合子约1%^[9]。国内马君牧于1964年报告首例,至1985年底见于文献共11例^[1-5]主要研究了本病的免疫障碍,但均未提及有关染色体的研究。近两年本院共诊治4例,全部作了染色体和免疫功能的检查,发现这4例分属两种类型,报道如下。     

肝豆状核变性类似杂合丢失现象的报告及可能机制探讨

对39个家系45个病人及60例正常人的ATP7B基因的几个外显子采用8～10%的非变性丙稀酰胺胶进行SSCP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(C2250G和G2273T),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。 Abstract：　 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 patients family: C2250G and G2273T. Found in these two mutation points, the patients father is a heterozygote, patients 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.     

Wilson病基因编码产物：铜转运P型ATP酶研究进展

Wilson病（WD）是一种以铜代谢障碍为特征的常染色体隐性遗传病,其致病基因定位于13q14.3,该基因编码产物为转运铜离子和P型－ATP酶（ATP7B）。本文对Wilson病基因编码产物P型－ATP7B酶的分子结构特点,铜结合区的功能,ATP7B蛋白的多种形式等的研究进行综述。     

肝豆状核变性类似杂合丢失现象的报告及可能机制探讨

对39个家系45个病人及60例正常人的ATP7B基因的几个外显子采用8～10%的非变性丙稀酰胺胶进行SSCP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(C2250G和G2273T),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。 Abstract：　 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 patients family: C2250G and G2273T. Found in these two mutation points, the patients father is a heterozygote, patients 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.     

Wilson病基因产物及铜转运P型ATP酶的研究进展

肝豆状核变性（ＷＤ）基因已被克隆,序列分析表明,其基因产物（ＡＴＰ７Ｂ）编码的是一种衾中１４１１个氨基酸的铜转运Ｐ型ＡＴＰ酶。ＡＴＰ７Ｂ具有这些酶所独有的功能结构区：金属离子结合位点、阳离子转导区、ＳＥＨＰ序更及跨膜区等,ＷＤ基因高频突变位点多与这些结构有密切关系。对ＡＴＰ７Ｂ的深入研究将为探讨ＷＤ的发病机制及诊断和治疗提供帮助。