A case of Bw39 subtype caused by 562C to T mutation of exon 7 of α -1,3-D-galactosyltransferase gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 427-430, 2017.
Article
在 Zh
| WPRIM
| ID: wpr-335110
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To analyze a sample with ABO subgroup using serological and molecular methods.</p><p><b>METHODS</b>The ABO phenotype of the sample was determined with a tube method, and the activity of glycosyltransferases was determined with an uridine diphosphate galactose transferring method. The ABO gene of the propositus was identified by PCR with sequence-specific primers (PCR-SSP). In addition, exons 6 and 7 of the ABO gene were cloned and sequenced.</p><p><b>RESULTS</b>Neither A nor B antigen was identified in the propositus, despite that its anti-B antibody was found to be attenuated. No activity of α -1, 3-D-galactosyltransferase was detected in the serum. The presence of B and O alleles were confirmed by PCR-SSP, and a novel mutation (562C to T) of the exon 7 was confirmed by sequencing, which has led to an amino acid substitution (Arg to Cys) at position 188. The genotype of the propositus was determined as Bnew/O.</p><p><b>CONCLUSION</b>A novel B allele has been identified, which was named as Bw39 by the Blood Group Antigen Gene Mutation Database (BGMUT).</p>
全文:
1
索引:
WPRIM
主要主题:
ABO Blood-Group System
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Molecular Sequence Data
/
Base Sequence
/
Exons
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Point Mutation
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Amino Acid Substitution
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Alleles
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Galactosyltransferases
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Genetics
研究类型:
Prognostic_studies
限制:
Adult
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Humans
/
Male
语言:
Zh
期刊:
Chinese Journal of Medical Genetics
年:
2017
类型:
Article