如何评估先天性因子 XIII 缺乏症患者的奠基者效应。
How to Assess Founder Effect in Patients with Congenital Factor XIII Deficiency.
作者信息
Shahraki Hojat, Dorgalaleh Akbar, Fathi Majid, Tabibian Shadi, Teimourian Shahram, Mollanoori Hasan, Khiabani Alireza, Zaker Farhad
机构信息
Department of Hematology and Blood Transfusion, School of Allied Medicine, Iran University of Medical Sciences, Tehran, Iran.
Department of Medical Biotechnology, School of Allied Medicine, Iran University of Medical Sciences. Tehran- Iran.
出版信息
Int J Hematol Oncol Stem Cell Res. 2020 Oct 1;14(4):265-273. doi: 10.18502/ijhoscr.v14i4.4480.
Congenital factor XIII (FXIII) deficiency is an extremely rare bleeding disorder (RBD) with estimated prevalence of one per 2 million in the general population. The disorder causes different clinical manifestations such as intracranial hemorrhage (ICH), recurrent miscarriage, umbilical cord bleeding, etc. High incidence of the disorder might be due to founder effect. To assess founder effect, haplotype analysis is an important step. For this purpose, suitable and reliable genetic markers such as microsatellites (Hum FXIIIA01 and HumFXIIIA02) and single nucleotide polymorphisms (SNP) are suggested. In the present study we tried to describe evaluation of founder effect in patients with congenital FXIII deficiency via haplotype analysis using suitable genetic markers.
先天性因子 XIII（FXIII）缺乏症是一种极为罕见的出血性疾病（RBD），在普通人群中的估计患病率为每 200 万人中有 1 例。该疾病会引发不同的临床表现，如颅内出血（ICH）、反复流产、脐带出血等。该疾病的高发病率可能归因于奠基者效应。为评估奠基者效应，单倍型分析是重要的一步。为此，建议使用合适且可靠的遗传标记，如微卫星（Hum FXIIIA01 和 HumFXIIIA02）和单核苷酸多态性（SNP）。在本研究中，我们试图描述通过使用合适的遗传标记进行单倍型分析，对先天性 FXIII 缺乏症患者的奠基者效应进行评估。
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