MUCOPOLYSACCHARIDOSIS TYPE IVA - COMMON DOUBLE DELETION IN THE N-ACETYLGALACTOSAMINE-6-SULFATASE GENE (GALNS)

被引：39
|
作者：
HORI, T [1 ]
TOMATSU, S [1 ]
NAKASHIMA, Y [1 ]
UCHIYAMA, A [1 ]
FUKUDA, S [1 ]
SUKEGAWA, K [1 ]
SHIMOZAWA, N [1 ]
SUZUKI, Y [1 ]
KONDO, N [1 ]
HORIUCHI, T [1 ]
OGURA, S [1 ]
ORII, T [1 ]
机构：
[1] ONOMICHI MUNICIPAL HOSP,DEPT PEDIAT,ONOMICHI,HIROSHIMA,JAPAN
来源：
GENOMICS | 1995年 / 26卷 / 03期
关键词：
D O I：
10.1016/0888-7543(95)80172-I
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
Mucopolysaccharidosis IVA (MPS TVA) is an autosomal recessive disorder caused by a deficiency in N-acetylgalactosamine-6-sulfatase (GALNS). We found two separate deletions of nearly 8.0 and 6.0 kb in the GALNS gene, including some exons. There are Alu repetitive elements near the breakpoints of the 8.0-kb deletion, and this deletion resulted from an Alu-Alu recombination. The other 6.0-kb deletion involved illegitimate recombinational events between incomplete short direct repeats of 8 bp at deletion breakpoints. The same rearrangement has been observed in a heteroallelic state in four unrelated patients. This is the first documentation of a common double deletion a gene that is not a member of a gene cluster. (C) 1995 Academic Press, Inc.
引用
收藏
页码：535 / 542
页数：8
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