一个家族中缺乏与HLA - DR2相关的DRB1基因。

Lack of HLA-DR2-associated DRB1 gene in a family.

作者信息

Singal D P, Ye M, Joseph S

机构信息

Department of Pathology, McMaster University, Hamilton, Ontario, Canada.

出版信息

Tissue Antigens. 1997 Jul;50(1):85-8. doi: 10.1111/j.1399-0039.1997.tb02842.x.

DOI:10.1111/j.1399-0039.1997.tb02842.x

PMID:9243764

Abstract

HLA-DR51 haplotypes co-express one DRB1 (B115 or B116) gene and one DRB5 gene. These haplotypes also carry two pseudogenes (DRB6 and DRB9) During routine HLA typing for transplantation, we observed an unexpected DR51 haplotype in two subjects (mother and daughter) in a family. Serological typing showed that these subjects are positive for DR51 and DQ6 but negative for DR15 and DR16. Investigations of genomic DNA by molecular techniques showed that these individuals carry DRB50101, DRB602 and DQB10602 genes, whereas the DRB1 gene associated with either DR15 (B11501 to B11504) or DR16 (B11601 to B11606) was not detected in the mother and daughter. It is possible that the new haplotype, DQB10602, DRB602, DRB50101, arose by deletion of DR2-associated DRB1 gene.

摘要

HLA - DR51单倍型共表达一个DRB1（B115或B116）基因和一个DRB5基因。这些单倍型还携带两个假基因（DRB6和DRB9）。在移植的常规HLA分型过程中，我们在一个家庭的两名受试者（母亲和女儿）中观察到一种意外的DR51单倍型。血清学分型显示这些受试者DR51和DQ6呈阳性，但DR15和DR16呈阴性。通过分子技术对基因组DNA进行的研究表明，这些个体携带DRB50101、DRB602和DQB10602基因，而在母亲和女儿中未检测到与DR15（B11501至B11504）或DR16（B11601至B11606）相关的DRB1基因。新的单倍型DQB10602、DRB602、DRB50101有可能是由于与DR2相关的DRB1基因缺失而产生的。