Airiti Library華藝線上圖書館 | 全台避難所資訊
由曾黎雲著作·2009—GeneticAnalysisofaFamilywithAutosomalRecessiveCongenitalNystagmus.曾黎雲,碩士指導教授:蘇怡寧.繁體中文DOI:10.6342/NTU.2009.02402DOI.
Congenital nystagmus (CN) is genetically heterogeneous. The inheritance model is mainly X-linked CN, but autosomal dominant and autosomal recessive forms have been described. Prevalence rates for CN of 1 in 1000 to 1 in 1500 have been reported. In November 2006 Tarpey et al. identified 22 nystagmus causing mutations in the FERM domain-containing 7 (FRMD7) gene. At least three distinct loci for autosomal dominant CN, include 6p12 (NYS2), 7p11 (NYS3) and 18q22.3-q23. However, Autosomal recessive CN is very rare and no loci have been identified. The pathophysiological mechanisms underlying nystagmus are poorly understood. Identification of FRMD7 gene has created a number of researches which are likely to provide valuable insights into the function and development of the oculomotor pathways. In this study, thirty-one short tandem repeats (STR) markers in a consanguineous mating famil...
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