A619→G substitution in the HEXB gene is not a deleterious mutation, but a frequent polymorphism
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چکیده
منابع مشابه
Frequent DNA methylation but not mutation of the ID4 gene in malignant lymphoma.
ID4 is a member of the inhibitor of DNA binding (ID) family, and inhibits the binding of basic helix-loop-helix transcription factors to DNA. In some malignant tumors, ID4 is inactivated by promoter hypermethylation, and is thought to be a candidate tumor suppressor gene (TSG). We have found that the promoter region of the ID4 gene is frequently methylated in lymphoid cell lines (100%, 9/9), pr...
متن کاملDesmin A213V substitution represents a rare polymorphism but not a mutation and is more prevalent in patients with heart dilation of various origins
Several desmin mutations have been described in patients with cardiomyopathies and distal myopathies. Among them, A213V substitution has been associated with three completely different clinical phenotypes: restrictive cardiomyopathy, dilated cardiomyopathy and isolated distal myopathy. However, the identification of this substitution also in control subjects has highlighted the question if the ...
متن کاملthe study of aaag repeat polymorphism in promoter of errg gene and its association with the risk of breast cancer in isfahan region
چکیده: سرطان پستان دومین عامل مرگ مرتبط با سرطان در خانم ها است. از آنجا که سرطان پستان یک تومور وابسته به هورمون است، می تواند توسط وضعیت هورمون های استروئیدی شامل استروژن و پروژسترون تنظیم شود. استروژن نقش مهمی در توسعه و پیشرفت سرطان پستان ایفا می کند و تاثیر خود را روی بیان ژن های هدف از طریق گیرنده های استروژن اعمال می کند. اما گروه دیگری از گیرنده های هسته ای به نام گیرنده های مرتبط به ا...
15 صفحه اولA Classic Case of Maple Syrup Urine Disease and a Novel Mutation in the BCKDHA Gene
Background: Maple syrup urine disease (MSUD) is an inherited branched-chain amino acid metabolic disorder caused by the deficiency in the branched-chain alpha-keto acid dehydrogenase (BCKD) complex. In MSUD, elevation of the branched-chain amino acids, such as alpha-keto acid and alpha-hydroxy acid, occurs due to the BCKDC gene deficiency, appearing in the blood, urine, and cerebrospinal fluid,...
متن کاملHereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report
Hereditary ataxias (HA) are a group of inherited neurological disorders caused by changes in genes. At least 115 different mutations in the senataxin (SETX) gene causing ataxia have been identified. There are no reports of any SETX gene mutation among the Iranian population. Here we report on two cases with homozygous and heterozygous mutations in which one patient was affected by HA with oculo...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 1998
ISSN: 1059-7794
DOI: 10.1002/humu.13801101110