Mutti Donald O, Semina Elena, Marazita Mary, Cooper Margaret, Murray Jeffrey C, Zadnik Karla
The Ohio State University College of Optometry, Columbus, Ohio 43210-1240, USA.
Am J Med Genet. 2002 Nov 1;112(4):355-60. doi: 10.1002/ajmg.10683.
The purpose of this study was to evaluate chromosomal regions previously linked to pathological myopia for linkage to juvenile myopia in a sample of myopic children and their families. Of 125 families with a myopic child participating in the Orinda longitudinal study of myopia, 53 submitted 221 buccal swab samples for genetic analysis. Myopia in proband children was defined as -0.75 D or more myopia in both meridians on cycloplegic autorefraction (1% tropicamide). Affected status in parents and siblings was obtained by survey. DNA was extracted from buccal mucosal cells, amplified by polymerase chain reaction (PCR), and then analyzed with seven markers for chromosome 12 and five markers for chromosome 18 in the regions previously associated with pathological myopia. LOD scores were not significant for any marker tested. The largest positive LOD score was 0.15 for GATA30F04. Model-free methods using a SimIBD approach suggested a possible linkage at one marker, GATA6H09 (P = 0.003), but these results were not supported by transmission disequilibrium test (TDT) analysis. The statistical power to detect LOD scores of > or =1.0, assuming homogeneity, was estimated at 93.2%. We found no confirmatory evidence of linkage between juvenile myopia and regions of chromosomes 12 and 18 previously associated with pathological myopia.
本研究的目的是在近视儿童及其家庭样本中，评估先前与病理性近视相关的染色体区域与青少年近视的连锁关系。在参与奥林达近视纵向研究的125个有近视儿童的家庭中，53个家庭提交了221份颊拭子样本用于基因分析。先证者儿童的近视定义为在使用1%托吡卡胺睫状肌麻痹验光时，两条子午线的近视度数均为-0.75 D或更高。通过调查获得父母和兄弟姐妹的患病情况。从颊黏膜细胞中提取DNA，通过聚合酶链反应（PCR）进行扩增，然后用先前与病理性近视相关区域的12号染色体的7个标记和18号染色体的5个标记进行分析。对于所测试的任何标记，LOD评分均无统计学意义。GATA30F04的最大正向LOD评分为0.15。使用SimIBD方法的无模型方法表明，在一个标记GATA6H09处可能存在连锁（P = 0.003），但这些结果未得到传递不平衡检验（TDT）分析的支持。假设具有同质性，检测LOD评分≥1.0的统计效能估计为93.2%。我们没有发现青少年近视与先前与病理性近视相关的12号和18号染色体区域之间存在连锁的证实性证据。
