Pseudo-autosomal dominant inheritance of PARK2:: two families with parkin gene mutations
Pseudo-autosomal dominant inheritance of PARK2:: two families with parkin gene mutations
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DOI：
10.1016/s0022-510x(02)00358-1
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发表时间：
2003-03-15
影响因子：
4.4
通讯作者：
Hattori, N
中科院分区：
文献类型：
--
作者：
Kobayashi, T;Matsumine, H;Hattori, N
我们报告两代人中有两个早发性帕金森综合征家系(S家系和N家系)。遗传方式为常染色体显性遗传，但单倍体分析提示与PARK2基因座6q25.2-27连锁，所有受累成员均为单倍型纯合子。在S家族中，患病的父亲与未患病的母亲结婚，后者在染色体6q25.2-27上携带一种与疾病相关的单倍型。在N家系中，未受感染的母亲携带一种与疾病相关的单倍型。定量聚合酶链式反应分析发现，S家系外显子3缺失，N家系外显子5缺失。S家系起病年龄为18~22岁，N家系为25~42岁。因此，在这些群体中，parkin基因的携带者状态可能很高，患者和携带者的婚姻预计会导致常染色体显性遗传。我们得出结论，即使PARK2的遗传模式表现为常染色体显性遗传，当患者年轻时也不能排除PARK2。(C)2003年，爱思唯尔科学公司出版。
We report two families (Family S and Family N) with early-onset parkinsonism in two generations. The mode of inheritance appeared to be autosomal dominant, however, haplotye analysis suggested linkage to chromosome 6q25.2-27, the PARK2 locus, and all affected members were homozygotes in their haplotypes. In Family S, the affected father was married to unaffected mother, who carried one disease-linked haplotype at chromosome 6q25.2-27. In Family N, the unaffected mother carried one disease-linked haplotype. Quantitative PCR amplification analysis revealed exon 3 deletion in Family S and exon 5 deletion in Family N. The age of onset was from 18 to 22 years in Family S and 25 to 42 years in Family N. In both of their hometowns, most people lived in the same districts for many generations and consanguineous marriages had been common. Thus, the carrier state of the parkin gene might have been high in those communities, and marriage of a patient and a carrier is expected to result in autosomal dominant like inheritance. We conclude that PARK2 cannot be excluded even if the mode of inheritance appears as autosomal dominant, when the affected patients are young. (C) 2003 Published by Elsevier Science B.V.