GENETIC MECHANISM OF
CONGENITAL HYPOTHYROIDISM ¡ªSTUDY
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.