MAPPING OF A DISTAL FORM OF SPINAL MUSCULAR-ATROPHY WITH UPPER-LIMB PREDOMINANCE TO CHROMOSOME 7P

被引：97

作者：

CHRISTODOULOU, K

KYRIAKIDES, T

HRISTOVA, AH

GEORGIOU, DM

KALAYDJIEVA, L

YSHPEKOVA, B

IVANOVA, T

WEBER, JL

MIDDLETON, LT

机构：

[1] CYPRUS INST NEUROL & GENET,NICOSIA,CYPRUS

[2] UNIV HOSP QUEEN JOANNA,DEPT NEUROL,SOFIA,BULGARIA

[3] LAB MOLEC PATHOL,SOFIA,BULGARIA

[4] BURGASS DIST HOSP,BURGASS,BULGARIA

[5] MARSHFIELD MED RES FDN,MARSHFIELD,WI

来源：

HUMAN MOLECULAR GENETICS | 1995年 / 4卷 / 09期

关键词：

D O I：

10.1093/hmg/4.9.1629

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：

An autosomal dominant distal form of spinal muscular atrophy mainly affecting the upper limbs with a mean age of onset of 17 years has been identified in a large Bulgarian family, Linkage of the above family to the spinal muscular atrophy type I, II and III locus on chromosome 5 has been excluded. In an attempt to map this disease gene we have analysed individuals of this family, with more than 140 microsatellite polymorphic markers of the human genome. A maximum lod score of 5.99 at theta = 0.007 has been obtained with locus D7S795. We have thus mapped the gene for this hereditary form of distal spinal muscular atrophy to chromosome 7p.

引用

页码：1629 / 1632

页数：4

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