近亲家族的全基因组图谱证实了先前涉及特定语言障碍（SLI）的基因座，并提示了新的基因座。

Genome-Wide Mapping of Consanguineous Families Confirms Previously Implicated Gene Loci and Suggests New Loci in Specific Language Impairment (SLI).

作者信息

Yousaf Adnan, Hafeez Huma, Basra Muhammad Asim Raza, Rice Mabel L, Raza Muhammad Hashim, Shabbir Muhammad Imran

机构信息

Department of Biological Sciences, International Islamic University, Islamabad 45500, Pakistan.

Speech-Language-Hearing: Sciences & Disorders, University of Kansas, Lawrence, KS 66045-7555, USA.

出版信息

Children (Basel). 2024 Aug 30;11(9):1063. doi: 10.3390/children11091063.

DOI:10.3390/children11091063

PMID:39334596

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11429814/

Abstract

Specific language impairment (SLI) is a developmental disorder with substantial genetic contributions. A genome-wide linkage analysis and homozygosity mapping were performed in five consanguineous families from Pakistan. The highest LOD scores of 2.49 at 12p11.22-q11.21 in family PKSLI-31 and 1.92 at 6p in family PKSLI-20 were observed. Homozygosity mapping showed a loss of heterozygosity on 1q25.3-q32.2 and 2q36.3-q37.3 in PKSLI-20. A loss of heterozygosity mapped, in PKSLI-31 and PKSLI-34 flanks, and , which are genes previously identified in SLI. Our findings report novel SLI loci and corroborate previously reported SLI loci, indicating the utility of a family-based approach.

摘要

特定语言障碍（SLI）是一种具有大量遗传因素的发育障碍。对来自巴基斯坦的五个近亲家庭进行了全基因组连锁分析和纯合性定位。在PKSLI - 31家庭中，在12p11.22 - q11.21处观察到最高LOD分数为2.49，在PKSLI - 20家庭中，在6p处观察到最高LOD分数为1.92。纯合性定位显示PKSLI - 20中1q25.3 - q32.2和2q36.3 - q37.3杂合性缺失。在PKSLI - 31和PKSLI - 34侧翼定位到杂合性缺失，以及，这些是先前在SLI中鉴定出的基因。我们的研究结果报告了新的SLI基因座，并证实了先前报道的SLI基因座，表明基于家庭的方法的实用性。