LINKAGE ANALYSIS OF SPINAL MUSCULAR-ATROPHY

被引：49

作者：

DANIELS, RJ

THOMAS, NH

MACKINNON, RN

LEHNER, T

OTT, J

FLINT, TJ

DUBOWITZ, V

IGNATIUS, J

DONNER, M

ZERRES, K

RIETSCHEL, M

COOKSON, WOC

BRZUSTOWICZ, LM

GILLIAM, TC

DAVIES, KE

机构：

[1] HAMMERSMITH HOSP,ROYAL POSTGRAD MED SCH,LONDON W12 0HS,ENGLAND

[2] COLUMBIA UNIV,DEPT PSYCHIAT,NEW YORK,NY 10032

[3] VAESTOLLITTO,DEPT MED GENET,SF-00100 HELSINKI,FINLAND

[4] UNIV BONN,INST HUMAN GENET,W-5300 BONN,GERMANY

[5] JOHN RADCLIFFE HOSP,NUFFIELD DEPT CLIN MED,OXFORD OX3 9DU,ENGLAND

[6] COLUMBIA UNIV COLL PHYS & SURG,NEW YORK,NY 10032

来源：

GENOMICS | 1992年 / 12卷 / 02期

关键词：

D O I：

10.1016/0888-7543(92)90382-3

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：

Linkage data between four markers on chromosome 5 confirm and extend our previous studies that localized the mutation in spinal muscular atrophy to 5q11.2-q13.3. Localization of D5S6 by in situ hybridization refines the mapping of the defective gene to the region 5q12.2-q13. We also report the use of a highly informative PCR-based polymorphism with five alleles. This RFLP will be particularly useful for prenatal diagnosis where only old tissue samples from affected individuals are available. The high heterozygosity of this locus should also assist in identifying recombinants that will refine the genetic mapping of the mutation. © 1992.

引用

页码：335 / 339

页数：5

共 22 条

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