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.
Artigo
em Chinês
| 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>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Sistema do Grupo Sanguíneo P
/
Linhagem
/
Fenótipo
/
Tipagem e Reações Cruzadas Sanguíneas
/
Sequência de Bases
/
Éxons
/
Alergia e Imunologia
/
Galactosiltransferases
/
Genética
/
Genótipo
Tipo de estudo:
Estudo prognóstico
Limite:
Adulto
/
Feminino
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2012
Tipo de documento:
Artigo
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