Yu-Jin Alvin Ng, Moshi Grace Benjamin, Prasath Arun, Chan Marieta, Michelle Poon Limei, Charles Loh Chee Khiong, Cho Louise, Voon Valerie, Jing Seng Zi, Yen Phang Chew, Ho Aloysius Yew Leng
National University Hospital, Singapore.
KK Women's and Children's Hospital, Singapore.
Blood Cell Ther. 2022 Nov 11;5(4):99-106. doi: 10.31547/bct-2022-004. eCollection 2022 Nov 25.
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 A33:03-B58:01-C03:02-DRB103:01～DQB102:01:01G 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 A33:03～B44:03～C07:01:01G～ DRB107:01-DQB102:01:01G, with a frequency of 3.41%, whereas within the Indian donor population, the most common haplotype was A01:01-B57:01-C06:02～DRB107:01-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.
我们描述了在一个志愿非亲属骨髓捐献者登记处、一个公共脐带血库以及新加坡卫生科学局（HSA）处理的供体/受体样本中观察到的等位基因和单倍型频率。对历史人类白细胞抗原（HLA）分型报告进行匿名处理并合并。使用HLA-net UNIFORMATE工具检查它们是否存在HLA分型命名差异或歧义，为了进行分析，随后根据新加坡使用的种族分类系统，将经过验证的数据分为华裔、马来裔、印度裔和“其他”。使用基本统计数据，通过HLA-net GENE[RATE]管道计算各个种族的等位基因和单倍型频率。对于给定的HLA基因座，使用HLA-net的基本统计工具，通过期望最大化算法，根据一组多等位基因数据对来估计单倍型频率。从该网站下载的输出文件包括带有单倍型频率估计值的纯文本文件、全局连锁不平衡检验结果以及与预期频率偏差相对应的标准化残差（stdres）。59,186名个体的HLA分型结果符合纳入标准，产生了118,372个可分析的等位基因。在我们的研究人群中，频率为4.91%的单倍型A33:03 - B58:01 - C03:02 - DRB103:01～DQB102:01:01G最为常见。这种单倍型在新加坡华裔捐献者中也最为常见。与占主导地位的华裔人群一致，频率大于1%的单倍型也是新加坡人群中最常观察到的单倍型。在马来裔供体人群中，最常见的单倍型是A33:03～B44:03～C07:01:01G～DRB107:01 - DQB102:0,1:01G，频率为3.41%，而在印度裔供体人群中，最常见的单倍型是A01:01 - B57:01 - C06:02～DRB107:01 - DQB1*03:03，频率为3.42%。供体库中的单倍型多样性和组成统计数据提供了有针对性招募供体所需的HLA背景数据，以支持该国造血干细胞供体的需求。这些数据未来可用于制定供体招募策略，通过有针对性的宣传和积累来优化供体库。
