Sequence Analysis of Thyroid Transcription Factor-2 (TTF-2) Gene in Ten Patients with Congenital Hypothyroidism due to Thyroid Dysgenesis.

2000 ◽  
Vol 9 (1) ◽  
pp. 37-40
Author(s):  
Takeo Kuribayashi ◽  
Akira Hishinuma ◽  
Sanae Kanazawa ◽  
Yuko Nihei ◽  
Megumi Hoshi ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Sequence Analysis ◽  
Congenital Hypothyroidism ◽  
Thyroid Dysgenesis ◽  
Thyroid Transcription Factor

scholarly journals A Case Report on Genetic Analysis of Exon2 of Thyroid Transcription Factor 2 Gene in Congenital Hypothyroidism Patient

2021 ◽  
Vol 3 (2) ◽  
pp. 19-21
Author(s):  
Marjia Khatun ◽  
Laila Anjuman Banu
Keyword(s):  
Transcription Factor ◽  
Pediatric Patient ◽  
Congenital Hypothyroidism ◽  
Sanger Sequencing ◽  
Demographic Data ◽  
Local Alignment ◽  
Cycle Sequencing ◽  
Thyroid Transcription Factor ◽  
Search Tool ◽  
Information Database

A-3-year- old Bangladeshi pediatric patient named Tasin was presented with a diagnosed case of congenital hypothyroidism (CH). This type of hypothyroidism may occur due to the alteration in the nucleotide sequences of the Thyroid transcription factor 2 gene. Few studies are present on the genetic basis of this disease. CH is common in Bangladesh, may be due to geographical variation or other causes. Therefore, this study was conducted to identify whether there was any genetic alteration in the exon2 of Thyroid transcription factor 2 gene. With due procedure and permission from the guardian of the pediatric patient, socio-demographic data was collected. Isolation of DNA, quantitation and qualitation of DNA was ensured, polymerase chain reaction (PCR) was performed, the amplicons that was obtained from PCR; validated visually by gel electrophoresis methods; cycle sequencing was performed by Sanger sequencing. The chromatogram data that was obtained from Sanger sequencing was analyzed and compared with the National Center for Biotechnology Information database by Basic Local Alignment Search Tool search. Sanger sequencing revealed substitution (c.1051G>T) in the Sequence Tagged Site of the exon2 of Thyroid transcription factor 2 gene and this is new variants and not reported in National Center for Biotechnology Information database.

Mutations in the Gene EncodingThyroid Transcription Factor-1 (TTF-1) Are Not a Frequent Cause of Congenital Hypothyroidism (CH) with Thyroid Dysgenesis

Thyroid ◽  
1997 ◽  
Vol 7 (3) ◽  
pp. 383-387 ◽  
Author(s):  
PAOLA LAPI ◽  
PAOLO EMIDIO MACCHIA ◽  
LUCA CHIOVATO ◽  
ELIO BIFFALI ◽  
LIDIA MOSCHINI ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Congenital Hypothyroidism ◽  
Thyroid Dysgenesis ◽  
Transcription Factor 1

scholarly journals Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis

2010 ◽  
Vol 54 (6) ◽  
pp. 555-559 ◽  
Author(s):  
Frouzandeh Mahjoubi ◽  
Mona Malek Mohammadi ◽  
Maryam Montazeri ◽  
Masoud Aminii ◽  
Mahin Hashemipour
Keyword(s):  
Transcription Factor ◽  
Congenital Hypothyroidism ◽  
Single Strand Conformation Polymorphism ◽  
Clinical Tests ◽  
Gene Encoding ◽  
Thyroid Dysgenesis ◽  
Pax8 Gene ◽  
And Function ◽  
Conformation Polymorphism ◽  
Iranian Patients

OBJECTIVE: Congenital hypothyroidism (CH) may be caused by defects in the thyroid or in one of the stages in the synthesis of thyroid hormones. Thyroid dysgenesis may be associated with mutation in the paired box transcription factor 8 (PAX8) gene. We attempted to screen PAX8 gene mutation in 50 CH patients with thyroid dysgenesis. SUBJECTS AND METHODS: The patients were classified in two groups as agenesis and ectopic based on biochemical and para clinical tests. By employing PCR, Single Strand Conformation Polymorphism (SSCP) and sequencing, exons 3 to 12 of PAX8 gene with their exon-intron boundaries were studied. RESULTS: No mutation was found in these patients in any of the exons. CONCLUSION: Our results, once again, indicate that the PAX8 mutation rate is very low and can only explain a minority of the cases. Therefore, it is highly needed to further investigate the genes controlling development and function of thyroid.

scholarly journals Polymorphism of the polyalanine tract of thyroid transcription factor-2 gene in patients with thyroid dysgenesis

2001 ◽  
pp. 385-389 ◽  
Author(s):  
A Hishinuma ◽  
Y Ohyama ◽  
T Kuribayashi ◽  
N Nagakubo ◽  
T Namatame ◽  
...  
Keyword(s):  
Transcription Factor ◽  
Thyroid Gland ◽  
Direct Sequencing ◽  
Gene Promoter ◽  
Human Thyroid ◽  
Gene Encoding ◽  
Developmental Defects ◽  
Thyroid Dysgenesis ◽  
Thyroid Transcription Factor ◽  
Polyalanine Tract

OBJECTIVE: One of the thyroid-specific transcription factors, thyroid transcription factor-2 (TTF-2), performs a crucial role in the development of the thyroid gland. We performed genetic analysis of the TITF2 gene (encoding TTF-2) in patients with thyroid dysgenesis. METHODS: By direct sequencing of the PCR products of TITF2, we screened the genomic DNA from 46 patients with thyroid dysgenesis (five had agenesis, six had hypoplasia, 15 had ectopy, and 20 were undetermined). We also studied the transcriptional activities of TITF2 by co-expressing the luciferase gene directed by the human thyroglobulin gene promoter. RESULTS: Human TITF2 consists of a forkhead domain, a polyalanine tract, and unique C-terminal residues. In one of the patients with an ectopic sublingual thyroid, we found a polyalanine tract of 11 alanine residues on one chromosome instead of the 14 alanine residues found in normal controls. In one patient with hypoplasia, the polyalanine tract consisted of 12 heterozygous alanine residues. The reduced polyalanine tracts were not detected in 101 normal individuals. However, the expression study showed that the transcriptional activities of TITF2 with reduced polyalanine-tract lengths were equal to that of TITF2 with an unreduced polyalanine tract. CONCLUSION: These results suggest that the polymorphism of the polyalanine tract of TITF2 is not a frequent cause of developmental defects of the human thyroid gland.

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