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High Frequency of D727E Polymorphisms in Exon 10 of the TSHR Gene in Brazilian Patients with Congenital Hypothyroidism
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Erik A. C. Alves
Veröffentlicht/Copyright:
2. März 2011
ABSTRACT
Congenital Hypothyroidism affects between 1:3000 and 1:4000 newborn infants in iodine-sufficient regions. Some studies have shown that mutations and polymorphisms in the TSH receptor gene are responsible for this disease. In the present study, mutations of exon 10 of the TSH receptor gene were investigated in Congenital Hypothyroidism patients. In the present study a sample of 90 Brazilian patients with primary congenital hypothyroidism was analyzed. Genomic DNA was isolated from peripheric blood samples. Exon 10 of the TSH receptor gene was amplified by PCR, and amplicons were automatically sequenced. Three nucleotide alterations were identified: c.1377G>A (A459A), c.1935G>A (L645L), and c.2181C>G (D727E). A459A polymorphism was also described previously in patients with thyroid cancer. The nucleotide alteration L645L was found in a single patient. This is the first time the L645L mutation has been described. D727E polymorphism showed high frequency (allele frequency 10%) in present study when compared to others reports.
Published Online: 2011-03-02
Published in Print: 2010-December
© Freund Publishing House Ltd. 2010
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Schlagwörter für diesen Artikel
thyroid;
congenital hypothyroidism;
receptor thyrotropin;
plymorphism;
D727E
Artikel in diesem Heft
- Congenital Adrenal Hyperplasia (CAH) a Wolf in a Rabbits' Fur
- Endogenous Hyperandrogenism and Exercise Capacity Lessons from the Exercise-Congenital Adrenal Hyperplasia Model
- A Child with Cushing's Syndrome – Etiological Clue from Adrenal Imaging (Pediatric Cushing's Syndrome)
- Polycystic Ovaries and Adrenal Insufficiency in a Young Pubescent Female with Lipoid Congenital Adrenal Hyperplasia Due to Splice Mutation of the StAR Gene: A Case Report and Review of the Literature
- Does Fat Fuel the Fire: Independent and Interactive Effects of Genetic, Physiological, and Environmental Factors on Variations in Fat Deposition and Distribution across Populations
- Application of Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS) in Screening of High Risk Children with Inherited Metabolic Diseases in Northern China
- Relationship Between Aminotransferases Levels and Components of the Metabolic Syndrome Among Multiethnic Adolescents
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- Changes in Dynamic Insulin and Gastrointestinal Hormone Secretion in Obese Children
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- Two Novel Mutations of SRD5A2 Gene in Indonesian Siblings with Clinical 5-Alpha-Reductase Deficiency
- Serendipitous Identification of Graves' Disease in Identical Twins with Polydipsia
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