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Iranian Journal of Pediatric Hematology and Oncology، جلد ۴، شماره ۱، صفحات ۲۶-۳۱
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عنوان انگلیسی Family screening for a novel ATP7B gene mutation, c.2335T>G, in the South of Iran
چکیده انگلیسی مقاله Background 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. Materials and Methods 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. Results Altogether, 16 out of 120 (13.3%) individuals within this region had heterozygous mutation. One individual with homozygote mutation was also identified. Conclusion 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.
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نویسندگان مقاله j منوچهری | j manoochehri
department of medical genetics, medical school, shiraz university of medical sciences, shiraz, iran 2. comprehensive me

سازمان اصلی تایید شده: دانشگاه علوم پزشکی شیراز (Shiraz university of medical sciences)

r معصومی | r masoumi dehshiri
health policy research center, shahid sadoughi university of medical sciences and health services, yazd, iran.

سازمان اصلی تایید شده: دانشگاه علوم پزشکی شیراز (Shiraz university of medical sciences)

h فرجی | h faraji
comprehensive medical genetics centre, shiraz, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی شهید صدوقی یزد (Shahid sadooghi university of medical sciences)

s محمدی | s mohammadi
comprehensive medical genetics centre, shiraz, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی شیراز (Shiraz university of medical sciences)

h dastsooz | h dastsooz
1. department of medical genetics, medical school, shiraz university of medical sciences, shiraz, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی شیراز (Shiraz university of medical sciences)
سازمان های دیگر: . Department of Molecular Medicine, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, |Shiraz, Iran |5. Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran

t مرادی | t moradi
comprehensive medical genetics centre, shiraz, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی شیراز (Shiraz university of medical sciences)

e رضایی | e rezaei
comprehensive medical genetics centre, shiraz, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی شیراز (Shiraz university of medical sciences)

kh صادقی | kh sadeghi
comprehensive medical genetics centre, shiraz, iran

سازمان اصلی تایید شده: دانشگاه علوم پزشکی شیراز (Shiraz university of medical sciences)

m فردایی | m fardaei
1. department of medical genetics, medical school, shiraz university of medical sciences, shiraz, iran 2. comprehensive

سازمان اصلی تایید شده: دانشگاه علوم پزشکی شیراز (Shiraz university of medical sciences)
سازمان های دیگر: 4. Department of Molecular Medicine, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, |Shiraz, Iran

نشانی اینترنتی http://ijpho.ssu.ac.ir/browse.php?a_code=A-10-70-6&slc_lang=en&sid=en
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