Tanwar Mukesh, Kumar Manoj, Dada Tanuj, Sihota Ramanjit, Dada Rima
Laboratory For Molecular Reproduction and Genetics, Department of Anatomy, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
Mol Vis. 2010 Oct 8;16:1996-2006.
To screen the myocilin (MYOC) and forkhead box protein C1 (FOXC1) genes for sequence variations in primary congenital glaucoma (PCG).
Seventy five PCG patients were screened for MYOC variations and 54 cases (negative or heterozygous for cytochrome P4501B1 mutations) for FOXC1 mutations by polymerase chain reaction (PCR) and DNA sequencing.
Five single nucleotide polymorphisms (SNPs; -126T>C, -83G>A, p.R76K, IVS2+35G>A, and p.Y347Y) were identified in MYOC and two sequence variations (GGC375ins and GGC447ins) in FOXC1. No pathogenic variations were identified in MYOC and FOXC1 in our patients.
MYOC and FOXC1 mutations are not involved in pathogenesis of primary congenital glaucoma in our patients. Thus, it is important to screen other loci for involvement in congenital glaucoma in cases which are negative or heterozygous for CYP1B1 mutations to have a better insight in to disease pathogenesis.
筛查原发性先天性青光眼（PCG）患者的肌纤蛋白（MYOC）和叉头框蛋白C1（FOXC1）基因的序列变异。
通过聚合酶链反应（PCR）和DNA测序，对75例PCG患者进行MYOC变异筛查，对54例（细胞色素P4501B1突变阴性或杂合子）进行FOXC1突变筛查。
在MYOC中鉴定出5个单核苷酸多态性（SNP；-126T>C、-83G>A、p.R76K、IVS2+35G>A和p.Y347Y），在FOXC1中鉴定出2个序列变异（GGC375ins和GGC447ins）。在我们的患者中，未在MYOC和FOXC1中鉴定出致病变异。
MYOC和FOXC1突变不参与我们患者原发性先天性青光眼的发病机制。因此，对于CYP1B1突变阴性或杂合子的先天性青光眼病例，筛查其他基因座以了解疾病发病机制非常重要。
