Investigation of RHD 1227A allele in five pedigrees in Zhejiang Han population / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 536-539, 2006.
Article
in Chinese
| WPRIM
| ID: wpr-285083
ABSTRACT
<p><b>OBJECTIVE</b>To analysis the genetic mode of Rh DEL phenotype and RHD 1227A allele in Zhejiang Han population through family investigations.</p><p><b>METHODS</b>Rh DEL phenotypes were identified by a serologic adsorption-elution method. Two polymerase chain reaction-sequence specific prime (PCR-SSP) methods which detectED RHD 1227A allele and Rhesus hybrid box, respectively, and a nucleotide sequencing method focused on the exon 9 of RHD 1227A allele were employed to determine the zygosity of RHD allele.</p><p><b>RESULTS</b>All five probands with Rh DEL phenotype harbored a RHD 1227A allele and had a RHD allele deletion, and they were RHD 1227A/RHd heterozygote. One of the parent members was found to contain a RHD 1227A allele and a normal RHD allele in pedigree 1, 2 and 3, respectively. Thus, they were RHD 1227A/RHD heterozygotes and presented normal D positive phenotype. The son of proband No 1. inherited the RHD 1227A allele and presented a normal D positive phenotype due to a RHD 1227A/RHD heterozygote; The offsprings of proband No. 2, No. 4, and No. 5 did not inherit RHD 1227A allele and presented a normal D positive phenotype.</p><p><b>CONCLUSION</b>RHD 1227A allele is an important genetic marker of Rh DEL phenotype; RHD 1227A is recessive to normal RHD allele and dominant to RHd allele; RHD 1227A allele is an ancestral, but not a spontaneously mutated allele.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Phenotype
/
Rh-Hr Blood-Group System
/
China
/
Polymerase Chain Reaction
/
Alleles
/
Genetics
/
Genotype
/
Methods
Type of study:
Prognostic study
Limits:
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2006
Type:
Article
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