REFINED LINKAGE MAP OF CHROMOSOME-5 IN THE REGION OF THE SPINAL MUSCULAR-ATROPHY GENE

被引：22

作者：

MELKI, J

BURLET, P

CLERMONT, O

PASCAL, F

PAUL, B

ABDELHAK, S

SHERRINGTON, R

GURLING, H

NAKAMURA, Y

WEISSENBACH, J

LATHROP, M

MUNNICH, A

机构：

[1] HOP NECKER ENFANTS MALAD,INSERM,U12,UNITE RECH HANDICAPS GENET ENFANT,149 RUE DE SEVRES,F-75743 PARIS 15,FRANCE

[2] UNIV COLL & MIDDLESEX SCH MED,LONDON W1N 8AA,ENGLAND

[3] JAPANESE FDN CANC RES,INST CANC,DIV BIOCHEM,TOKYO 170,JAPAN

[4] INST PASTEUR,F-75724 PARIS 15,FRANCE

[5] GENETHON,EVRY,FRANCE

[6] CTR ETUD POLYMORPHISME HUMAIN,F-75010 PARIS,FRANCE

来源：

GENOMICS | 1993年 / 15卷 / 03期

关键词：

D O I：

10.1006/geno.1993.1103

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：

The genetic map in the region of human chromosome 5 that harbors the gene for autosomal recessive forms of spinal muscular atrophy (SMA) has been refined by a multilocus linkage study in 50 SMA-segregating families. Among six markers spanning 8 cM for combined sexes, four were shown to be tightly linked to the SMA locus. Multipoint linkage analysis was used to establish the best estimate of the SMA gene location. Our data suggest that the most likely location for the SMA locus is between blocks AFM114ye7 (D5S465)/EF5.15 (D5S125) and MAP-1B/JK53 (D5S112) at a sex-combined genetic distance of 2.4 and 1.7 cM, respectively. Thus the SMA gene lies in the 4-cM region between these two blocks. This information is of primary importance for designing strategies for isolating the SMA gene. © 1993 Academic Press. All rights reserved.

引用

页码：521 / 524

页数：4

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