Premium
Molecular basis and zygosity determination of D variants including identification of four novel alleles in C hinese individuals
Author(s) -
He Ji,
Ying Yanling,
Hong Xiaozhen,
Xu Xianguo,
Zhu Faming,
Lv Hangjun
Publication year - 2015
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.12797
Subject(s) - zygosity , multiplex ligation dependent probe amplification , allele , genetics , biology , multiplex , population , gene , exon , medicine , environmental health
Background The frequency and molecular basis of the D variants have been reported in the C aucasian and A frican populations, but relatively little information was known in the C hinese population. Here, a study was investigated in C hinese persons with weak or discrepant D serologic typing. Study Design and Methods D variant was typed with a serologic method. The full coding regions of RHD of these variants were amplified with polymerase chain reaction and then directly sequenced. RHD zygosity test was performed using the hybrid R hesus box technique and a multiplex ligation–dependent probe amplification ( MLPA ) assay was also used to analyze the variant alleles and RHD gene copy number. Results Twelve distinct RHD mutation alleles were found in 32 D variant individuals, with eight weak D and four partial D alleles. Weak D T ype 15 and DVI T ype 3 were the major weak D and partial D alleles in Z hejiang H an persons. Three novel weak D alleles ( RHD weak D 95 A , 779 G , and 670 G ) and one new partial D allele ( RHD 130‐132 del TCT ) were identified. The results of RHD zygosity in three individuals disagreed between the RHD zygosity test and the MLPA assay. The most known variant alleles can be detected, but four novel alleles were missed using the RH‐MLPA assay. Conclusion The molecular basis and zygosity of D variants in Z hejiang H an persons were analyzed, and four novel RHD alleles were identified. These data extend the information of D variants and may help to improve the transfusion strategy of the D variants.