首页   按字顺浏览 期刊浏览 卷期浏览 Detection and localization of an extra HLA locus in a karyotypically normal male by chr...
Detection and localization of an extra HLA locus in a karyotypically normal male by chromosomal in situ hybridization

 

作者: Cynthia C. Morton,   Judith A. Brown,   Ilan R. Kirsch,   Glen A. Evans,   Thalachallour Mohanakumar,   Walter E. Nance,  

 

期刊: Clinical Genetics  (WILEY Available online 1986)
卷期: Volume 29, issue 1  

页码: 62-72

 

ISSN:0009-9163

 

年代: 1986

 

DOI:10.1111/j.1399-0004.1986.tb00772.x

 

出版商: Blackwell Publishing Ltd

 

关键词: Chromosomal in situ hybridization;HLA

 

数据来源: WILEY

 

摘要:

The codominant expression of three HLA haplotypes was found in a healthy 21‐year‐old Black male, whose prometaphase karyotype was normal by light microscopy. He was the sibling of an antenatally diagnosed female fetus with a partial duplication of 6p. The duplication arose from a complex presumably balanced maternal chromosome rearrangement: 46, XX, dir ins(14;6)(14pter→14p11::6p22→6p21.1::14p11→14qter;6pter→6p22::6p21.1→6qter). Chromosomalin situhybridization using a tritium‐labeled genomic clone corresponding to a class I HLA gene revealed two sites of hybridization: at 6p21.3, the band to which this probe has been assigned in normal individuals (Morton et al. 1984a) and a second site at 6p11. We postulate that a recombinational event during meiotic pairing in the mother led to the reintroduction into the normal chromosome 6 homolog of a small segment of the original insertion in chromosme 14 which contained the HLA‐A an

 

点击下载:  PDF (783KB)



返 回