A rare Pk phenotype caused by a 433 C>T mutation of the β-1,3-N-acetylgalactosyltransferase gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 381-384, 2015.
Article
in Chinese
| WPRIM
| ID: wpr-239464
ABSTRACT
<p><b>OBJECTIVE</b>To study the serological characteristics and molecular mechanism for a rare Pk phenotype of the P1Pk blood group system.</p><p><b>METHODS</b>The blood group of the proband was identified by serological techniques. The coding region and flanking intronic sequences of the β-1,3-N-acetylgalactosyltransferase gene (B3GALANT1) associated with the Pk phenotype were analyzed using polymerase chain reaction sequence-based typing.</p><p><b>RESULTS</b>The proband was identified as having a rare Pk phenotype including anti-P in her serum. The blood group of her daughter and husband showed a P2 phenotype. The nucleotide sequences of the B3GALANT1 gene of her husband and two randomly-chosen individuals were the same as the reference sequence (GenBank AB050855). Nucleotide position 433 C>T homozygous mutation in the B3GALANT1 was found in the proband, which has resulted in a stop codon at amino acid position 145, which may produce a premature protein capable of decreasing or inhibiting the activity of the β -1,3-N-acetylgalactosyltransferase. The nucleotide position 433 C/T heterozygous in the B3GALANT1 was found in her daughter.</p><p><b>CONCLUSION</b>The Pk phenotype resulted from 433 C>T mutation in the B3GALANT1 gene has been identified.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Phenotype
/
ABO Blood-Group System
/
Blood Grouping and Crossmatching
/
Molecular Sequence Data
/
Base Sequence
/
Point Mutation
/
N-Acetylgalactosaminyltransferases
/
Genetics
/
Genotype
Type of study:
Prognostic study
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2015
Type:
Article
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