Serological and genetic study of a pedigree featuring a rare p phenotype / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 701-704, 2012.
Article
Dans Chinois
| WPRIM
| ID: wpr-232227
ABSTRACT
<p><b>OBJECTIVE</b>To explore genetic background of a pedigree with a rare p phenotype from Guangdong province.</p><p><b>METHODS</b>The rare p phenotype was identified by a conventional serologic method. With genomic DNA of proband and family members extracted, exon 3 of alpha-(1,4)galactosyltransferase (A4GALT) gene was amplified with PCR and analyzed by direct sequencing. The mutation found in the pedigree was screened in a normal population using direct sequencing.</p><p><b>RESULTS</b>The proband and 4 family members with the rare p phenotype have all carried a point mutation c.100G>A (p.Val34Ile) in combination with a deletion-insertional mutation c.418_428del11ins34(p.Gln139Trpfs*72), which renders a compound mutation of A4GALT gene. One family member with P2 phenotype has carried a same heterozygous mutation. Of the 100 healthy donors, 5 have carried a heterozygous point mutation c.100G>A, and none carried the deletion-insertional mutation c.418_428del11ins34.</p><p><b>CONCLUSION</b>The rare p phenotype of the pedigree has resulted from a compound mutation of the A4GALT gene, which is in keeping with a recessive inheritance pattern of the p phenotype.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Système P
/
Pedigree
/
Phénotype
/
Groupage sanguin et épreuve de compatibilité croisée
/
Séquence nucléotidique
/
Exons
/
Allergie et immunologie
/
Galactosyltransferases
/
Génétique
/
Génotype
Type d'étude:
Étude pronostique
Limites du sujet:
Adulte
/
Femelle
/
Humains
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2012
Type:
Article
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