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Linkage analysis of spinal muscular atrophy.

作者信息

Daniels R J, Thomas N H, MacKinnon R N, Lehner T, Ott J, Flint T J, Dubowitz V, Ignatius J, Donner M, Zerres K

机构信息

Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, United Kingdom.

出版信息

Genomics. 1992 Feb;12(2):335-9. doi: 10.1016/0888-7543(92)90382-3.

DOI:10.1016/0888-7543(92)90382-3
PMID:1346777
Abstract

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.

摘要

相似文献

1
Linkage analysis of spinal muscular atrophy.
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2
Large linkage analysis in 100 families with autosomal recessive spinal muscular atrophy (SMA) and 11 CEPH families using 15 polymorphic loci in the region 5q11.2-q13.3.在100个常染色体隐性遗传性脊髓性肌萎缩症（SMA）家庭以及11个CEPH家庭中，利用位于5q11.2-q13.3区域的15个多态性位点进行大型连锁分析。
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