法布里病中人类α-半乳糖苷酶A基因的部分缺失：直接重复序列可能是滑动错配的原因
Partial deletion of human alpha-galactosidase A gene in Fabry disease: direct repeat sequences as a possible cause of slipped mispairing.
作者信息
Fukuhara Y, Sakuraba H, Oshima A, Shimmoto M, Nagao Y, Nadaoka Y, Suzuki T, Suzuki Y
机构信息
Department of Clinical Genetics, Tokyo Metropolitan Institute of Medical Science, Japan.
出版信息
Biochem Biophys Res Commun. 1990 Jul 16;170(1):296-300. doi: 10.1016/0006-291x(90)91273-u.
A partial deletion involving exon 3 associated with a single base change (A to C) was found in the alpha-galactosidase A gene of a hemizygous male Fabry patient and his mother, a heterozygous proband. This 402-bp deletion was flanked by 6-bp direct repeat sequences, and the intervening portion was found to have unique complementary sequences. These specific structures may have promoted "slipped mispairing" in this family.
在一名半合子男性法布里病患者及其母亲（一名杂合子先证者）的α-半乳糖苷酶A基因中，发现了一个涉及外显子3的部分缺失，该缺失与单个碱基变化（A变为C）相关。这个402碱基对的缺失两侧是6碱基对的直接重复序列，并且发现中间部分具有独特的互补序列。这些特定结构可能在这个家族中促进了“滑动错配”。
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