A Pedigree Investigation of H-antigen Deletion Caused by Mutation of 658 C to T in the FUT1 Gene

作者全名："Li, Chun; Gu, Zelan; Hou, Yijun; Gao, Qi; Xu, Guping; Lu, Hua"

作者地址："[Li, Chun; Gu, Zelan; Hou, Yijun; Gao, Qi; Xu, Guping; Lu, Hua] Chongqing Med Univ, Transfus Dept, Affiliated Hosp 2, Linjiang Rd 74, Chongqing 400010, Peoples R China"

通信作者："Lu, H (通讯作者)，Chongqing Med Univ, Transfus Dept, Affiliated Hosp 2, Linjiang Rd 74, Chongqing 400010, Peoples R China."

来源：INDIAN JOURNAL OF HEMATOLOGY AND BLOOD TRANSFUSION

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:000992762300001

JCR分区：Q4

影响因子：0.9

年份：2023

卷号：　

期号：　

开始页：　

结束页：　

文献类型：Article; Early Access

关键词：Blood group; FUT1 gene; H-deficient

摘要："H-antigen deletion is often caused by FUT1 gene mutation, which is a very rare blood group. In this case, the H-antigen phenotype, FUT1, FUT2 sequences, and family genetic investigation of a 26-year-old patient (proband) and her three family members were studied. The results showed that the proband and little her brother were H-deficient phenotype, their ABO genotype of both was A/O1, her father was A/B, and her mother was O1/O1. The proband and her little brother's FUT1 phenotype were both h3|h3, with a homozygous mutation 658C > T in their FUT1 gene, and the FUT1 phenotype of their parents' were H|h3, with a heterozygous mutation (658C > T) in their FUT1 gene. The result of whole gene sequencing showed that the father of the proband had a deletion of CHR19.49,255,178-49,257,177 in the FUT1 gene (hg19 was used as the reference). The results of the family investigation showed that the mutation of site 658 in the FUT1 gene between offspring and parents was consistent with Mendelian inheritance law."

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