Mutation of IVS2 –12A/C>G in Combination with 707–714delGAGACTAC in the CYP21 Gene Is Caused by Deletion of the C4-CYP21 Repeat Module with Steroid 21-Hydroxylase Deficiency
نویسندگان
چکیده
منابع مشابه
the 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 اولDeletion of the C4-CYP21 repeat module leading to the formation of a chimeric CYP21P/CYP21 gene in a 9.3-kb fragment as a cause of steroid 21-hydroxylase deficiency.
plasma) (15 ), of vitamin E (carried in lipoproteins together with cholesterol) and other antioxidants (16 ), and in sepsis, with reduced antioxidant protection by sulfur amino acids (17 ). In sepsis, it is also related to impaired energy and amino acid disposal, which is partly reversed by increasing the amino acid supply (2, 18). Recent studies also suggest that cholesterol becomes an essenti...
متن کاملAnalysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.
BACKGROUND A single nonfunctional chimeric gene with its 5' and 3' ends corresponding to CYP21P and CYP21, respectively, is caused by unequal gene crossover in the CYP21 genes during meiosis. The presence of the chimeric CYP21P/CYP21 molecule can not be detected by conventional PCR methods and therefore may be lost in PCR amplification. This leads to a false result and diagnostic discordance. ...
متن کاملFrequency of CYP21 gene mutations in Czech patients with steroid 21-hydroxylase deficiency and statistical comparison with other populations.
OBJECTIVE To undertake mutational analysis in patients with different forms of steroid 21-hydroxylase deficiency. SUBJECTS AND METHODS CYP21 gene molecular analysis was performed in 76 Czech patients diagnosed with steroid 21-hydroxylase deficiency. Eight of the most common point mutations (intron 2 splice, P30L, 8bp deletion in exon 3, I172N, V281L, Q318X, R356W, and P453S) were analyzed usi...
متن کاملstudy of cohesive devices in the textbook of english for the students of apsychology by rastegarpour
this study investigates the cohesive devices used in the textbook of english for the students of psychology. the research questions and hypotheses in the present study are based on what frequency and distribution of grammatical and lexical cohesive devices are. then, to answer the questions all grammatical and lexical cohesive devices in reading comprehension passages from 6 units of 21units th...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2003
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2003-030047