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[韩国人人类白细胞抗原-A、-B和-DR基因座的等位基因和单倍型频率:1500份脐血样本的DNA分型]

[Allele and haplotype frequencies of human leukocyte antigen-A, -B, and -DR loci in Koreans: DNA typing of 1,500 cord blood units].

作者信息

Whang Dong Hee, Yang Yun Sun, Hong Hye Kyung

机构信息

Department of Laboratory Medicine, Seoul Paik Hospital, Inje University College of Medicine, Seoul, Korea.

出版信息

Korean J Lab Med. 2008 Dec;28(6):465-74. doi: 10.3343/kjlm.2008.28.6.465.

Abstract

BACKGROUND

The HLA system is known to be the most polymorphic genetic system in human, and HLA allele and haplotype distribution varies widely among different ethnic groups. This study was performed to examine the frequencies of HLA alleles and haplotypes in Koreans.

METHODS

We examined HLA-A, -B, and -DR alleles at the serologic level in 1,500 cord blood units obtained from Koreans using the PCR-sequence specific oligonucleotide (SSO) method. Allele and haplotype frequencies were estimated by the maximum likelihood method using the computer program developed for the 11th International Histocompatibility Workshop.

RESULTS

HLA alleles found in Koreans were 12 in A, 31 in B, and 13 in DR loci. Most frequent alleles with frequencies > or =10% in each locus in decreasing order of frequency were: A2, A24, A33, A11; B62; DR4, DR15, DR9, and DR13. Two-locus haplotypes with frequencies > or =0.1% were 104 A-B and 115 B-DR haplotypes, among which those with frequencies > or =1.0% showing significant positive linkage disequilibrium (P< or =0.001) were 21 A-B and 20 B-DR haplotypes. A total of 169 A-B-DR haplotypes with frequencies > or =0.1% were identified. The results were similar to those of a previous study in 1,600 Koreans, although some differences were noted in the distribution of some less frequent alleles or haplotypes with frequencies < or =0.5%.

CONCLUSIONS

We provided the allele and haplotype frequencies of HLA-A, -B, and -DR in cord blood units of Korean ethnicity defined by a DNA typing method, which can be used as basic data on Koreans for organ transplantation and disease association studies.

摘要

背景

已知人类白细胞抗原(HLA)系统是人类中多态性最高的遗传系统,并且HLA等位基因和单倍型分布在不同种族群体中差异很大。本研究旨在检测韩国人中HLA等位基因和单倍型的频率。

方法

我们使用聚合酶链反应-序列特异性寡核苷酸(PCR-SSO)方法,在血清学水平上检测了从韩国人获得的1500份脐血样本中的HLA-A、-B和-DR等位基因。等位基因和单倍型频率通过使用为第11届国际组织相容性研讨会开发的计算机程序的最大似然法进行估计。

结果

在韩国人中发现的HLA等位基因在A位点有12个,B位点有31个,DR位点有13个。每个位点上频率≥10%的最常见等位基因按频率从高到低依次为:A2、A24、A33、A11;B62;DR4、DR15、DR9和DR13。频率≥0.1%的两位点单倍型有104种A-B和115种B-DR单倍型,其中频率≥1.0%且显示显著正连锁不平衡(P≤0.001)的有21种A-B和20种B-DR单倍型。共鉴定出169种频率≥0.1%的A-B-DR单倍型。结果与之前对1600名韩国人的研究相似,尽管在一些频率≤0.5%的低频等位基因或单倍型的分布上存在一些差异。

结论

我们提供了通过DNA分型方法确定的韩国人脐血样本中HLA-A、-B和-DR的等位基因和单倍型频率,这些数据可作为韩国人器官移植和疾病关联研究的基础数据。

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