Cloning and complete sequence of a novel HLA-A null allele, A*0253 N, with a termination codon generated by a C to G mutation in exon 2.
A novel HLA-A null allele, A*0253 N, has been identified in two generations of a Chinese family using combined serological and molecular cloning approaches. Full-length genomic DNA sequencing indicated that this new allele differs from HLA-A*02011 by a single C to G substitution at nucleotide position 324 in exon 2. This mutation results in an amino acid change from a tyrosine codon to a stop codon at position 108. A PCR-SSP based method was developed to distinguish A*0253 N from A*02 alleles. No further individuals of A*0253 N were found in 718 Chinese blood donors who carry the HLA-A*02 allele1.
Wu
G-G
GG
Shenzhen Institute of Transfusion Medicine, Shenzhen, China National Institutes of Health, Bethesda, USA.
Cheng
L-H
LH
Deng
Z-H
ZH
Wang
L-X
LX
Wei
T-L
TL
Yang
C-S
CS
Zhao
T-M
TM
D000483:Alleles; D003001:Cloning, Molecular; D018388:Codon, Terminator / Q000235:genetics*; D005091:Exons; D015234:HLA-A Antigens / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D017354:Point Mutation
D018388:Codon, Terminator; D015234:HLA-A Antigens