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