Molecular background of D-negative phenotype in the Tunisian population.

H Moussa, M Tsochandaridis, T Chakroun, S Jridi, B Abdelneji, S Hmida, M Silvy, P Bailly, J Gabert, A Levy-Mozziconacci, Saloua Jemni-Yacoub
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引用次数: 28

Abstract

Background: Most studies of the molecular basis of Rhesus D-negative phenotype have been conducted in Caucasian and African populations. A comprehensive survey of RHD alleles was lacking in people from North Africa (Tunisians, Moroccans and Algerians) which could be very efficient for managing donors and patients carrying an RHD molecular variant. We analyse the molecular background of D-negative population in Tunisia in the present study.

Materials and methods: Blood samples were collected from native Tunisians. A total of 448 D-negative donors from different regions of Tunisia were analysed by RHD genotyping according to an adopted strategy using real-time PCR, ASP-PCR and sequencing.

Results: Among the 448 D-negative samples, 443 were phenotyped unequivocally as true D-negative including three molecular backgrounds which were RHD gene deletion (n = 437), RHDψ pseudogene (n = 2) and RHD-CE-D hybrid gene (n = 4) with the respective frequencies of 0·9900, 0·0023 and 0·0046. The remaining five samples, in discordance with the serological results, were identified as two weak D type 11, one weak D type 29, one weak D type 4·0 and one DBT-1 partial D.

Conclusion: This study showed that the Tunisian population gets closer to Caucasians, given that the RHD gene deletion is the most prevalent cause of D-negative phenotype, but it is slightly different by the presence of the RHDψ pseudogene which was found with a very low frequency compared with that described in the African population. Nevertheless, the relative occurrence of weak D variants among studied serologically D-negative samples make necessary the adaptation of RHD genotyping strategy to the spectrum of prevalent alleles.

突尼斯人群d -阴性表型的分子背景。
背景:大多数关于恒河猴d阴性表型分子基础的研究都是在高加索和非洲人群中进行的。缺乏对北非人群(突尼斯人、摩洛哥人和阿尔及利亚人)RHD等位基因的全面调查,这可能对管理携带RHD分子变异的捐赠者和患者非常有效。本研究分析了突尼斯d阴性人群的分子背景。材料与方法:采集突尼斯人的血液样本。根据采用的实时PCR、ASP-PCR和测序策略,对来自突尼斯不同地区的448例d阴性供体进行RHD基因分型分析。结果:在448份d阴性样本中,443份具有明确的真d阴性表型,包括RHD基因缺失(n = 437)、RHD假基因(n = 2)和RHD- ce - d杂交基因(n = 4) 3种分子背景,频率分别为0.9900、0.0023和0.0046。其余5份样本与血清学结果不符,鉴定为2例弱D 11型、1例弱D 29型、1例弱D 4.0型和1例DBT-1偏D型。该研究表明,突尼斯人群与高加索人更接近,因为RHD基因缺失是d -阴性表型最普遍的原因,但与非洲人群相比,RHD假基因的存在略有不同,RHD假基因的发现频率非常低。然而,在研究的血清学D阴性样本中,弱D变异的相对发生使得RHD基因分型策略有必要适应流行等位基因的谱。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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