Confirmation of a genetic locus for X-linked recessive high myopia outside MYP1

State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-Sen University, 54 Xianlie Road, Guangzhou, 510060, People's Republic of China.
Journal of Human Genetics (Impact Factor: 2.53). 02/2007; 52(5):469-72. DOI: 10.1007/s10038-007-0130-9
Source: PubMed

ABSTRACT High myopia is a severe ocular condition affecting approximately 100 million people throughout the world. It is a common cause of blindness, and several studies have suggested it is transmitted through Mendelian traits. High myopia is clinically and genetically heterogeneous, with eight loci assigned. Most loci have not been confirmed by additional studies, and genes responsible for high myopia have not been identified. We recently studied a Chinese family with X-linked high myopia and mapped the high myopia locus to Xq25-q27.2. This linked region overlapped with that of MYP13 but was outside MYP1.

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Available from: Qingjiong Zhang, Sep 11, 2014
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    • "La plupart de ces régions chromosomiques identifiées par analyse de liaison n'ont pu être répliquées, à l'exception de la région Xq23-q27.2 (MYP13) dans l'ethnie chinoise Han [21] et des régions 4q25 (MYP11), 5p15 (MYP16), 12q2 (MYP3) et 18p11 (MYP2) qui ont été confirmées par des analyses d'association. Au final, ces analyses de liaison familiale ont amené à la localisation d'un seul gène impliqué dans la pathogénie de la myopie forte. "
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