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Molecular background of weak D type 15 as the predominant weak D type found in Chinese population / 中国实验血液学杂志
Journal of Experimental Hematology ; (6): 1024-1028, 2006.
Article Dans Chinois | WPRIM | ID: wpr-282739
ABSTRACT
This study was aimed to investigate the molecular genetic basis and serological phenotype of Rh weak D type 15 individuals. Samples were identified by serological tests and genotyped by sequence specific primer-PCR (SSP-PCR), and were sequenced to detect the changes of all ten RHD exons. The number of gene RHD was detected through SSP-PCR. The results showed that in tested individuals of weak D type confirmed by the IAT, 18 cases (56% in weak D) were weak D type 15. Rh factors found in 2 weak D type 15 individuals (11%) were C+c+E+e; Rh factors found in 2 weak D type 15 individuals (11%) were C+c+E-e+; others (78%) were c-c+E+e+. The results by serological tests were consistent with the results genotyped by PCR-SSP method. In all 18 samples, the sequencing result revealed a gene mutation 845G > A at the exon 6 of the RHD and the point mutation changed amino acid G282D of the RhD polypeptide. The zygosity test demonstrated that 2 out of 18 weak D type 15 individuals were RHD(+)/RHD(+) homozygous (two DCe/DcE), 16 cases were RHD(+)/RHD(-) heterozygous (two DCe/dce and fourteen DcE/dce). It is concluded that Weak D type 15 is predominant in weak D individuals of Chinese Han Nationality, and most of them are heterozygous with various RH haplotypes.
Sujets)
Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Phénotype / Polymorphisme génétique / Système Rhésus / Donneurs de sang / Haplotypes / Données de séquences moléculaires / Séquence nucléotidique / Chine / Réaction de polymérisation en chaîne / Exons Type d'étude: Étude pronostique Limites du sujet: Humains Pays comme sujet: Asie langue: Chinois Texte intégral: Journal of Experimental Hematology Année: 2006 Type: Article

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Texte intégral: Disponible Indice: WPRIM (Pacifique occidental) Sujet Principal: Phénotype / Polymorphisme génétique / Système Rhésus / Donneurs de sang / Haplotypes / Données de séquences moléculaires / Séquence nucléotidique / Chine / Réaction de polymérisation en chaîne / Exons Type d'étude: Étude pronostique Limites du sujet: Humains Pays comme sujet: Asie langue: Chinois Texte intégral: Journal of Experimental Hematology Année: 2006 Type: Article