生物
遗传学
等位基因
鉴定(生物学)
基因座(遗传学)
微卫星
人口
作者
Mindy Goldman,Arantxa Cemborain,Jacqueline Cote,Rachid El Hamss,Robert L. Flower,Adirane Garaizar,Felix Garcia-Sanchez,Catherine A. Hyland,Monica Kalvelage,Donatella Londero,Genghis H. Lopez,Nicoletta Revelli,Pablo Rodriguez-Wilhelmi,Antonietta Villa,Gorka Ochoa-Garay
出处
期刊:Transfusion
[Wiley]
日期:2016-01-01
卷期号:56 (1): 244-248
被引量:3
摘要
BACKGROUND
The introduction of molecular methods into routine blood typing is prompting the identification of new blood group alleles. Discrepancies between the results of genotyping and serology or chance events uncovered during genotyping prompted additional investigations, which revealed six new RHCE variant alleles.
STUDY DESIGN AND METHODS
Samples from eight blood donors, two patients (one prenatal), and a patient's relative, all of diverse racial origin, were analyzed by standard serology methods, targeted genotyping arrays, DNA sequencing, and allele-specific polymerase chain reaction.
RESULTS
Six new RHCE alleles were identified, namely, RHCE*cE84A, RHCE*ce202G, RHCE*ce307T, RHCE*Ce377G, RHCE*ce697G,712G,733G,744C, and RHCE*Ce733G.
CONCLUSION
While implementation of new assays in commercial genotyping platforms to detect the polymorphisms reported here may not be justified given their apparent rarity, software interpretative algorithms may benefit from the identification of new alleles for a more accurate determination of genotypes and prediction of phenotypes.
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