使用连锁DNA探针进行脊髓性肌萎缩症家系的基因分型。

Genotyping of spinal muscular atrophy families with linked DNA probes.

作者信息

Gennarelli M, Melchionda S, Fattorini C, Novelli G, Dallapiccola B

机构信息

Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata, Roma, Italy.

出版信息

Clin Genet. 1992 Dec;42(6):317-9. doi: 10.1111/j.1399-0004.1992.tb03264.x.

DOI:10.1111/j.1399-0004.1992.tb03264.x

PMID:1362926

Abstract

We report on linkage analysis and haplotype characterization in 40 Italian families with spinal muscular atrophy (SMA). The investigated loci included D5S6, D5S112, D5S39, and D5S76. No evidence of unlinked families was found. Thirty-two (80%) of the examined families were fully informative for prenatal diagnosis and carrier detection. The frequencies of individual alleles did not differ between SMA and normal chromosomes.

摘要

我们报告了对40个患有脊髓性肌萎缩症（SMA）的意大利家庭进行的连锁分析和单倍型特征分析。所研究的基因座包括D5S6、D5S112、D5S39和D5S76。未发现无连锁关系家庭的证据。32个（80%）受检家庭对于产前诊断和携带者检测具有充分的信息。SMA染色体和正常染色体之间的单个等位基因频率没有差异。