Identification of two novel weak D alleles by sequence-based typing
10.13303/j.cjbt.issn.1004-549x.2021.08.030
- VernacularTitle:DNA测序分析鉴定2个弱D新等位基因
- Author:
Xu ZHANG
1
;
Zhuren ZHOU
1
;
Xuying HUANG
1
;
Lichun LI
1
;
Xiaofeng LI
1
;
Jianping LI
1
Author Information
1. Shenyang Central Blood Station (Liaoning Blood Center), ShenYang 110044, China
- Publication Type:Journal Article
- Keywords:
RHD gene;
D variant;
sequence-based typing
- From:
Chinese Journal of Blood Transfusion
2021;34(8):913-916
- CountryChina
- Language:Chinese
-
Abstract:
【Objective】 To study the molecular basis of D variant and explore the molecular genetic mechanism of novel weak D alleles. 【Methods】 Blood samples were screened for D variants by serological method. The nucleotide sequences of coding region were amplified by PCR and sequenced directly, and RHD gene heterozygosity was detected. 【Results】 Weak D phenotype was confirmed by serological test, and two novel alleles were detected by DNA sequencing. The first was novel weak D 1102A allele, 1102G>A mutation in exon 8, resulting in a 368Glu>Arg substitution in two samples. The second was novel weak D 399C allele, carried a 399G>C mutation in exon 3, which led to a 133Lys>Asn substitution. 【Conclusion】 In this study, D variants were detected by sequence-based typing, and two new alleles were identified.
