Hou J Y, Luning Prak E, Kearns J, Wu J, Bassinger S, Birkos S, Williams T M, Kamoun M
Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19035, USA.
Tissue Antigens. 2002 Sep;60(3):262-5. doi: 10.1034/j.1399-0039.2002.600309.x.
A new HLA-B null allele has been identified within the B51 group by combined serological and molecular typing of an Italian Caucasoid family. Serological data indicated that the proband typed homozygous for A2 and B60. Confirmatory typing using sequence specific oligonucleotide hybridization (SSPOH) detected a second B allele within the B51 group. Allele specific typing (SSP) for B51 subtypes, including the known B5111N allele, was performed, and typing results were consistent with B5101, suggesting the presence of a new null variant. Cloning and sequencing of this allele identified a B5101 variant with a nonsense mutation in exon 3. This new null allele has been designated B*5127N. The combined use of serologic and DNA-based typing methods facilitates the identification of null and low-expression alleles. An overview of null alleles of class I HLA is presented.
通过对一个意大利白种人家庭进行血清学和分子分型相结合的方法，在B51组内鉴定出一个新的HLA - B无效等位基因。血清学数据表明，先证者的A2和B60分型为纯合子。使用序列特异性寡核苷酸杂交（SSPOH）进行的验证性分型在B51组内检测到第二个B等位基因。对包括已知的B5111N等位基因在内的B51亚型进行等位基因特异性分型（SSP），分型结果与B5101一致，提示存在一个新的无效变异体。对该等位基因进行克隆和测序，确定了一个在第3外显子中有无义突变的B5101变异体。这个新的无效等位基因已被命名为B*5127N。血清学和基于DNA的分型方法的联合使用有助于鉴定无效和低表达等位基因。本文对I类HLA无效等位基因进行了概述。
