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Two novel null alleles of the KEL gene detected in two Chinese women with the K null phenotype
Author(s) -
Yang Ying,
Wang LingLing,
Wang Chen,
Chen HePing,
Guo ZhongHui,
Zhang YuXian,
Zhu ZiYan
Publication year - 2009
Publication title -
transfusion medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.471
H-Index - 59
eISSN - 1365-3148
pISSN - 0958-7578
DOI - 10.1111/j.1365-3148.2009.00962.x
Subject(s) - biology , genetics , exon , null allele , accession number (library science) , proband , gene , allele , microbiology and biotechnology , genbank , phenotype , genomic dna , mutation
summary . In screening 87665 unrelated healthy blood donors in China, serology studies resulted in the detection of two K 0 probands, both female. To explore the molecular basis of the K null phenotype in the Chinese population, genomic DNA, total RNA, and reticulocyte RNA were subsequently prepared from the two probands, five family members of proband 1, four unrelated normal controls, and one unrelated KEL 1 control. Nucleic acids were analyzed for the KEL gene by DNA and RNA sequencing, while antigens were analyzed by flow cytometry with BRIC18, BRIC68, anti‐k, and anti‐Kp b . Two novel K null alleles were identified in both probands: in exon 3, 185insT (Ser62Phe and a premature stop codon in exon 4, GenBank accession number, EF208900), and in exon 7, 715G>T (Glu239Stop, GenBank accession number EF208901). Alternative splicing patterns were observed in RNA obtained from whole blood versus from a reticulocyte fraction. Our study identified these two novel K null alleles resulting in the K null phenotype, the frequency of the K null phenotype amongst Chinese mainlanders is only 0.00228%.