新加坡骨髓供者和脐带血单位的人类白细胞抗原等位基因和单倍型频率。

Alvin Ng Yu-Jin, Grace Benjamin Moshi, Arun Prasath, Marieta Chan, Poon Limei Michelle, Loh Chee Khiong Charles, Louise Cho, Valerie Voon, Seng Zi Jing, Phang Chew Yen, Aloysius Yew Leng Ho
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引用次数: 0

摘要

我们描述了等位基因和单倍型频率在志愿者无血缘关系骨髓供体登记、公共脐带血银行和新加坡卫生科学管理局(HSA)处理的供体/受体样本中看到的。历史人类白细胞抗原(HLA)分型报告匿名合并。使用HLA-net UNIFORMATE工具检查他们的HLA分型命名差异或歧义,然后根据新加坡使用的种族分类系统将验证数据分为华人、马来人、印度人和“其他”人进行分析。采用HLA-net GENE[RATE]管道,利用基本统计方法计算个体等位基因和单倍型频率。利用HLA-net的基本统计工具,在给定HLA位点的一组多等位基因数据对的情况下,使用期望最大化算法估计单倍型频率。从网站下载的输出包括纯文本文件,其中包含单倍型频率估计、全球连锁不平衡测试的结果以及与预期频率偏差相对应的标准化残差(stdres)。来自59,186人的HLA分型结果符合纳入标准,产生118,372个可分析等位基因。在本研究人群中,单倍型A*33:03-B*58:01-C*03:02-DRB1*03:01~DQB1*02:01:01G最常见,频率为4.91%。这种单倍型在新加坡华人捐赠者中也是最常见的。与中国优势人群一致,频率大于1%的单倍型也是新加坡人群中最常见的单倍型。马来供体人群中最常见的单倍型为A*33:03~B*44:03~C*07:01:01G~ DRB1*07:01-DQB1*02:01:01G,频率为3.41%;印度供体人群中最常见的单倍型为A*01:01-B*57:01-C*06:02~DRB1*07:01-DQB1*03:03,频率为3.42%。供体池内的单倍型多样性和组成统计提供了有针对性地招募供体所需的HLA背景数据,以支持国家对造血干细胞供体的要求。这些数据可以在未来用于制定捐赠者招募策略,通过有针对性的宣传和累积来优化捐赠者池。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Human leukocyte antigen allele and haplotype frequencies in Singapore bone marrow donors and cord blood units.

Human leukocyte antigen allele and haplotype frequencies in Singapore bone marrow donors and cord blood units.

Human leukocyte antigen allele and haplotype frequencies in Singapore bone marrow donors and cord blood units.

Human leukocyte antigen allele and haplotype frequencies in Singapore bone marrow donors and cord blood units.

We describe the allele and haplotype frequencies seen in a volunteer unrelated bone marrow donor registry, a public cord blood bank, and donor/recipient samples processed by the Health Sciences Authority (HSA) in Singapore. Historical human leukocyte antigen (HLA) typing reports were anonymized and combined. They were checked for HLA typing nomenclature discrepancies or ambiguities using the HLA-net UNIFORMATE tool, and for analysis, the validated data were subsequently separated into Chinese, Malay, Indian, and "Others," according to the race classification system used in Singapore. Individual ethnic allele and haplotype frequencies were calculated with the HLA-net GENE[RATE] pipeline using basic statistics. The Basic Statistics Tool of HLA-net was used to estimate haplotype frequency using an expectation maximization algorithm, given a set of multi-allelic data pairs for a given HLA locus. The outputs downloaded from the site comprised plain text files with haplotype frequency estimates, results of a global linkage disequilibrium test, and standardized residuals (stdres) corresponding to deviations from expected frequencies. HLA typing results from 59,186 individuals met the inclusion criteria, yielding 118,372 analyzable alleles. In our study population, the haplotype A*33:03-B*58:01-C*03:02-DRB1*03:01~DQB1*02:01:01G with a frequency of 4.91% was the most common. This haplotype was also the most common among Singaporean Chinese donors. Consistent with the predominant Chinese population, haplotypes with a frequency greater than 1% were also the most frequently observed haplotypes in the Singaporean population. In the Malay donor population, the most common haplotype was A*33:03~B*44:03~C*07:01:01G~ DRB1*07:01-DQB1*02:01:01G, with a frequency of 3.41%, whereas within the Indian donor population, the most common haplotype was A*01:01-B*57:01-C*06:02~DRB1*07:01-DQB1*03:03, with a frequency of 3.42%. Haplotype diversity and composition statistics within donor pools provide HLA background data required for the targeted recruitment of donors to support the hematopoietic stem cell donor requirements of the country. These data may be used in the future to devise donor recruitment strategies for optimizing the donor pool through targeted publicity and accruals.

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