PARTIAL DELETION OF HUMAN ALPHA-GALACTOSIDASE A GENE IN FABRY DISEASE - DIRECT REPEAT SEQUENCES AS A POSSIBLE CAUSE OF SLIPPED MISPAIRING

被引：30

作者：

FUKUHARA, Y

SAKURABA, H

OSHIMA, A

SHIMMOTO, M

NAGAO, Y

NADAOKA, Y

SUZUKI, T

SUZUKI, Y

机构：

[1] TOKYO METROPOLITAN INST MED SCI,CTR COMP,TOKYO 113,JAPAN

[2] GUNMA UNIV,SCH MED,DEPT INTERNAL MED 2,MAEBASHI,GUNMA 371,JAPAN

来源：

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS | 1990年 / 170卷 / 01期

关键词：

D O I：

10.1016/0006-291X(90)91273-U

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

A partial deletion involving exon 3 associated with a single base change (A to C) was found in the α-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. © 1990.

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页码：296 / 300

页数：5

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