Study on DEHAL1 Mutations in Patients with Congenital Hypothyroidism and Thyroid Goiter

Abstract

The objective of this research is to study the types and characteristics of DEHAL1 gene mutation in patients with congenital hypothyroidism (CH) and thyroid goiter from Shandong Province, which can provide some evidence for gene diagnosis of CH. 47 cases of patients who were diagnosed as CH combined with thyroid goiter by neonatal screening and 100 normal controls were selected as subjects and their genome DNA were extracted. All the exons were amplified by polymerase chain reaction (PCR) and PCR products were sequenced by direct sequencing (Sanger sequencing). DNA sequencing results were compared to the DEHAL1 gene reference sequence to see whether there was mutation, and χ2 test was used on the gene frequency of discovered Single Nucleotide Polymorphisms (SNP). The results showed that no DEHAL1 gene mutation was found in 60 cases of CH with thyroid goiter patients and 100 normal controls, however, two SNPs were found(rs672766, IVS3+129C>T; rs2076292, IVS3+142C>T) in intron region. There was no significant difference between the SNP rate in CH patients and normal controls (P > 0.05). It can be concluded that DEHAL1 gene mutation rate is very low which may not be the main factor leading to the congenital hypothyroidism (CH) with thyroid goiter in Shandong Province, China.