Center for Molecular Biology and Genetic Engineering (CBMEG), University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.
Department of Ophthalmology and Otorhinolaryngology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.
PLoS One. 2018 Nov 16;13(11):e0207409. doi: 10.1371/journal.pone.0207409. eCollection 2018.
The aim of this study was to estimate the age of the Cys433Arg (c.1297T>C, p.Cys433Arg) variant by comparing the genotypes of individuals affected and not affected by primary open angle glaucoma juvenile onset (JOAG). Our sample consisted of 35 JOAG-affected individuals from three families, 16 unrelated patients with the MYOC p.Cys433Arg variant and 16 unaffected individuals. Genomic DNA was amplified by PCR; nine short tandem repeats were genotyped through automated electrophoresis and three single nucleotide polymorphisms through Sanger sequencing. The determination of haplotypes was performed using Arlequin software and age estimation was performed using DMLE+ 2.3 and BDMC21 softwares. Four markers constituted the haplotypes associated with the p.Cys433Arg variant. The software DMLE+2.3 predicted an age of 43 generations for this variant with a 95% confidence interval ranging from 28 to 76 generations (560-1520 years) and BDMC21 predicted an age of 59 generations (1180 years) (95% CI: 40 to 100).
本研究旨在通过比较原发性开角型青光眼少年发病（JOAG）患者和非患者的基因型，来估计 Cys433Arg（c.1297T>C，p.Cys433Arg）变异的年龄。我们的样本包括 35 名来自三个家族的 JOAG 患者、16 名携带 MYOC p.Cys433Arg 变异但未患该病的患者和 16 名未受影响的个体。通过 PCR 扩增基因组 DNA；通过自动电泳对 9 个短串联重复序列进行基因分型，通过 Sanger 测序对 3 个单核苷酸多态性进行基因分型。使用 Arlequin 软件确定单倍型，使用 DMLE+2.3 和 BDMC21 软件进行年龄估计。四个标记构成与 p.Cys433Arg 变异相关的单倍型。DMLE+2.3 软件预测该变异的年龄为 43 代，95%置信区间为 28 至 76 代（560-1520 年），BDMC21 预测年龄为 59 代（1180 年）（95%CI：40 至 100）。
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