直接染色体分期:扩大产前诊断适用性的一种简单快速的方法

IF 0.6 Q4 HEMATOLOGY Thalassemia Reports Pub Date : 2022-07-01 DOI:10.3390/thalassrep12030011
S. Byrou, G. Christopoulos, Agathoklis Christofides, C. Makariou, Christiana Ioannou, M. Kleanthous, T. Papasavva
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引用次数: 0

摘要

在产前诊断分析中,等位基因单倍型的分配传统上依赖于家族研究分析。然而,这阻碍了基于单倍型分析的产前诊断的广泛应用,尤其是在人口分散的国家。在这里,我们提出了一种简单快速的方法,使用Droplet数字PCR直接测定单倍型块,克服了获取其他家庭成员基因样本的必要性。我们在9个家庭中证明了这种方法,这些家庭被转介到我们的中心,使用四种高度多态的单核苷酸变异和我们人群中最常见的致病性β-地中海贫血变异进行β-地中海贫血症的产前诊断。我们的方法成功地对所分析的所有九个家族进行了直接染色体定相和单倍型,证明了与基于家族三联体确定的单倍型完全一致。该方法的临床实用性旨在向所有病例开放β-地中海贫血产前诊断的应用,同时为扩展其他单基因疾病的产前诊断应用提供一个模型。
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Direct Chromosomal Phasing: An Easy and Fast Approach for Broadening Prenatal Diagnostic Applicability
The assignment of alleles to haplotypes in prenatal diagnostic assays has traditionally depended on family study analyses. However, this prevents the wide application of prenatal diagnosis based on haplotype analysis, especially in countries with dispersed populations. Here, we present an easy and fast approach using Droplet Digital PCR for the direct determination of haplotype blocks, overcoming the necessity for acquiring other family members’ genetic samples. We demonstrate this approach on nine families that were referred to our center for a prenatal diagnosis of β-thalassaemia using four highly polymorphic single nucleotide variations and the most common pathogenic β-thalassaemia variation in our population. Our approach resulted in the successful direct chromosomal phasing and haplotyping for all nine of the families analyzed, demonstrating a complete agreement with the haplotypes that are ascertained based on family trios. The clinical utility of this approach is envisaged to open the application of prenatal diagnosis for β-thalassaemia to all cases, while simultaneously providing a model for extending the prenatal diagnostic application of other monogenic diseases as well.
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来源期刊
Thalassemia Reports
Thalassemia Reports HEMATOLOGY-
自引率
0.00%
发文量
17
审稿时长
10 weeks
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