GENETIC MECHANISM OF CONGENITAL HYPOTHYROIDISM                                                 STUDY ON PAX 8 AND TSHR GENE

Huang XD, Gu XF, Shen YN, Zhang YF, Chen RG

Shanghai Institute for Pediatric Research,

Xinhua Hospital, Shanghai, China

 

Objective: To study genetic mechanism of primary congenital hypothyroidism (CH). 

Methods: SSCP analysis for PCR products of exon 2¾exon 9 of Pax8 gene was performed in 50 patients with CH. DNA direct sequence was completed in 40 patients caused by thyroid dysplasia. Three hot exons of TSHR gene, that is exon 10, 6, 1 were analyzed by PCR-SSCP in 50 patients. Further DNA sequencing and restriction analysis was accomplished.

Results: Mutation in coding region of Pax8 gene was excluded. A polymorphism D727E of TSHR was identified and showed no statistical difference between study group and health group in occurrence rate.

Conclusions: The study suggested that structural change in Pax8 gene is not a common cause in CH. Mutations of TSHR gene found in CH of other ethnic groups were not common in Chinese. It requires the exploration of other factors involved in genetic mechanism of CH in Chinese to make breakthrough.

 
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