An HLA-B null allele (B*1526N) with a stop codon in exon 3 generated by a point mutation

被引:39
作者
Mine, H
Ishikawa, Y
Hojo, M
Imashuku, S
Tokunaga, K
Juji, T
Saji, H
Yokoyama, S
机构
[1] KYOTO CITY HOSP,KYOTO,JAPAN
[2] JAPANESE RED CROSS CENT BLOOD CTR,TOKYO,JAPAN
来源
TISSUE ANTIGENS | 1997年 / 50卷 / 04期
关键词
HLA-B*1501; HLA-B*1526N; null allele; point mutation; stop codon;
D O I
10.1111/j.1399-0039.1997.tb02886.x
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
An HLA-B null allele was identified in a Japanese family during histocompatibility testing for bone marrow transplantation. The propositus was a healthy Japanese woman with three children, and her parents were cousins. Serological HLA typing of the family members indicated that the propositus was homozygous for the A24-Cw4-B blank (B null)-DR4.2-DQ3 haplotype. Total RNA was extracted from peripheral blood of the propositus was converted to first-strand cDNA using reverse transcriptase. The cDNA was amplified by the polymerase chain reaction (PCR) using HLA-B locus-specific primers. The PCR product showed no change in size upon polyacrylamide gel electrophoresis (PAGE) compared to that of normal controls, suggesting that HLA-B gene mRNA was normally expressed. The nucleotide sequence of the cDNA was the same as that of B*1501 except at nucleotide 369 or codon 123, where C was replaced with A; TAC encodes Tyr whereas TAA is a stop codon. This point mutation may have truncated the HLA-B molecule of the propositus, resulting in the negative results we obtained with anti-HLA-B sera.
引用
收藏
页码:351 / 354
页数:4
相关论文
共 11 条
[1]   SINGLE-STEP METHOD OF RNA ISOLATION BY ACID GUANIDINIUM THIOCYANATE PHENOL CHLOROFORM EXTRACTION [J].
CHOMCZYNSKI, P ;
SACCHI, N .
ANALYTICAL BIOCHEMISTRY, 1987, 162 (01) :156-159
[2]  
GERMAIN RN, 1993, ANNU REV IMMUNOL, V11, P403, DOI 10.1146/annurev.iy.11.040193.002155
[3]  
GUSTINCICH S, 1991, BIOTECHNIQUES, V11, P298
[4]   PCR-RFLP METHOD HOLDS GREAT PROMISE FOR COMPLETE HLA CLASS-II GENOTYPING [J].
INOKO, H .
TISSUE ANTIGENS, 1990, 36 (02) :88-92
[5]  
ISHIKAWA Y, 1995, IMMUNOGENETICS, V43, P1
[6]   Stable inheritance of an HLA-''blank'' phenotype associated with a structural mutation in the HLA-A*0301 gene [J].
Lienert, K ;
Russ, G ;
Lester, S ;
Bennett, G ;
Gao, X ;
McCluskey, J .
TISSUE ANTIGENS, 1996, 48 (03) :187-191
[7]   A SIMPLE AND RAPID METHOD FOR HLA-DQA1 GENOTYPING BY DIGESTION OF PCR-AMPLIFIED DNA WITH ALLELE SPECIFIC RESTRICTION ENDONUCLEASES [J].
MAEDA, M ;
MURAYAMA, N ;
ISHII, H ;
URYU, N ;
OTA, M ;
TSUJI, K ;
INOKO, H .
TISSUE ANTIGENS, 1989, 34 (05) :290-298
[8]   AN ALTERED SPLICE SITE IS FOUND IN THE DRB4 GENE THAT IS NOT EXPRESSED IN HLA-DR7, DW11 INDIVIDUALS [J].
SUTTON, VR ;
KIENZLE, BK ;
KNOWLES, RW .
IMMUNOGENETICS, 1989, 29 (05) :317-322
[9]   CYTO-TOXIC T-CELLS RECOGNIZE FRAGMENTS OF THE INFLUENZA NUCLEOPROTEIN [J].
TOWNSEND, ARM ;
GOTCH, FM ;
DAVEY, J .
CELL, 1985, 42 (02) :457-467
[10]  
WABUKEBUNOTI MAN, 1984, J IMMUNOL, V133, P2194