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A novel RHD allele, with c.491A > T (p.Asp164Val) mutation, identified via family pedigree analysis
Author(s) -
Wang Jing,
Que Wenjun,
Xing Yan,
Li Qing,
Zhan Tingxi,
Yu Zebo
Publication year - 2021
Publication title -
transfusion
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.045
H-Index - 132
eISSN - 1537-2995
pISSN - 0041-1132
DOI - 10.1111/trf.16377
Subject(s) - proband , sanger sequencing , genetics , exon , mutation , primer (cosmetics) , polymerase chain reaction , biology , allele , microbiology and biotechnology , gene , chemistry , organic chemistry
A Chinese Han man was confirmed to carry an RHD variation by serological tests, and exons 1 through 10 of the RHD gene were analyzed by sequence‐specific primer‐polymerase chain reaction. To clarify the nature of this mutation, Sanger sequencing was used and a c.491A > T mutation was identified in exon 4. The proband inherited this mutation from his father, as determined from a family pedigree.