Genomic strategies to understand causes of keratoconus

被引：41

作者：

Karolak, Justyna A. ^{[1
,2
]}

Gajecka, Marzena ^{[1
,2
]}

机构：

[1] Poznan Univ Med Sci, Dept Genet & Pharmaceut Microbiol, Swiecickiego 4, PL-60781 Poznan, Poland

[2] Polish Acad Sci, Inst Human Genet, Strzeszynska 32, PL-60479 Poznan, Poland

来源：

MOLECULAR GENETICS AND GENOMICS | 2017年 / 292卷 / 02期

关键词：

Keratoconus; Complex disease; High-throughput methods; Next-generation sequencing; Candidate gene; AUTOSOMAL-DOMINANT KERATOCONUS; POSTERIOR POLYMORPHOUS DYSTROPHY; RETINITIS-PIGMENTOSA REVEALS; LEBER CONGENITAL AMAUROSIS; CENTRAL CORNEAL THICKNESS; VSX1; GENE; SEQUENCE VARIANTS; FAMILIAL KERATOCONUS; MUTATIONAL ANALYSIS; WIDE ASSOCIATION;

D O I：

10.1007/s00438-016-1283-z

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Keratoconus (KTCN) is a degenerative disorder of the eye characterized by the conical shape and thinning of the cornea. The abnormal structure of KTCN-affected cornea results in loss of visual acuity. While many studies examine how environmental factors influence disease development, finding the genetic triggers has been a major emphasis of KTCN research. This paper focuses on genomic strategies that were implemented for finding candidate genes, including linkage and association studies, and presents different approaches of mutation screening. The advantages and limitations of particular tools are discussed based on literature and personal experience. Since etiology underlying KTCN is complex, numerous findings indicating heterogeneity of genetic factors involved KTCN etiology are presented.

引用

页码：251 / 269

页数：19

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