Manoochehri J, Masoumi Dehshiri R, Faraji H, Mohammadi S, Dastsooz H, Moradi T, Rezaei E, Sadeghi Kh, Fardaei M
Department of Medical Genetics, Medical School, Shiraz University of Medical Sciences, Shiraz, Iran ; Comprehensive Medical Genetics Centre, Shiraz, Iran.
Health Policy Research Center, Shahid Sadoughi University of Medical Sciences and Health Services, Yazd, Iran.
Iran J Ped Hematol Oncol. 2014;4(1):26-31. Epub 2014 Feb 20.
Wilson disease (WD) is a rare autosomal recessive disorder, which leads to copper metabolism, due to mutations in ATP7B gene. The gene responsible for WD consists of 21 exons that span a genomic region of about 80 kb and encodes a copper transporting P-type ATPase (ATP7B), a protein consisting of 1465 amino acids. Identifying mutation in ATP7B gene is important to find carrier individuals for proper counseling. A novel mutation in exon 8 of ATP7B gene, c.2335T>G (p.Trp779Gly), with severe neuropsychiatric condition in the South of Iran, was recently identified. The aim of this study was to screen 120 individuals from a large family using a simple amplification refractory mutation system PCR (ARMS-PCR) for carrier screening in the South of Iran.
120 individuals from family relatives of an index case in the Nasr Abad, south of Iran, were studied for screening of the c.2335T>G mutation. One patient with homozygous mutation and one homozygous normal individual were used as controls in this experiment.
Altogether, 16 out of 120 (13.3%) individuals within this region had heterozygous mutation. One individual with homozygote mutation was also identified.
Identification of carriers in families with affected individuals is of great importance for counseling before marriage. The results of this study can be used for further counseling programs in this population.
威尔逊病（WD）是一种罕见的常染色体隐性疾病，由于ATP7B基因突变导致铜代谢异常。导致WD的基因由21个外显子组成，跨越约80 kb的基因组区域，编码一种铜转运P型ATP酶（ATP7B），该蛋白由1465个氨基酸组成。识别ATP7B基因中的突变对于找到携带者个体进行适当的遗传咨询很重要。最近在伊朗南部发现了ATP7B基因第8外显子的一个新突变，即c.2335T>G（p.Trp779Gly），伴有严重的神经精神症状。本研究的目的是使用简单的扩增阻滞突变系统PCR（ARMS-PCR）对来自一个大家庭的120名个体进行筛查，以在伊朗南部进行携带者筛查。
对来自伊朗南部纳斯拉巴德一名索引病例的家族亲属中的120名个体进行研究，以筛查c.2335T>G突变。本实验使用一名纯合突变患者和一名纯合正常个体作为对照。
该区域120名个体中共有16名（13.3%）为杂合突变。还鉴定出一名纯合突变个体。
在有患病个体的家庭中识别携带者对于婚前遗传咨询非常重要。本研究结果可用于该人群的进一步遗传咨询项目。
