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目的研究山东地区先天性甲状腺功能减退伴甲状腺肿大患儿碘化酪氨酸脱碘酶(iodotyrosine deiodinase,DEHAL1)基因突变类型及特点,为基因诊断提供理论依据。方法对18例经新生儿筛查确诊为先天性甲减伴甲状腺肿大患者,采用PCR扩增与直接测序的方法,对DEHAL1基因全部外显子进行基因突变检测。结合测序验证及生物信息学分析,探讨山东地区先天性甲状腺功能减退伴甲状腺肿大患者常见的DEHAL1基因突变类型和特点。结果在18例先天性甲减伴甲状腺肿大患者中,均没有发现DEHAL1基因全部外显子基因突变。分别在5例患者中和4例患者中发现DEHAL1c.678 T>C(p.C265R)和DEHAL1 c.679 G>A(p.R265H)两个单核苷酸多态性位点。结论山东地区先天性甲减伴甲状腺肿大患者中,DEHAL1基因突变率低,可能不是该地区先天性甲减伴甲状腺肿大的主要病因。
Objective To study the types and characteristics of mutations of iodotyrosine deiodinase (DEHAL1) gene in children with congenital hypothyroidism and congenital myopathy in Shandong Province, and to provide a theoretical basis for gene diagnosis. Methods 18 cases of congenital hypothyroidism with goiter diagnosed by neonatal screening were detected. All the exons of DEHAL1 gene were detected by PCR amplification and direct sequencing. Combined with sequencing validation and bioinformatics analysis, the types and features of DEHAL1 gene mutations common in patients with congenital hypothyroidism and thyroid enlargement in Shandong Province were investigated. Results In all 18 patients with congenital hypothyroidism and thyroid enlargement, none of the exon gene mutations of DEHAL1 gene were found. Two single nucleotide polymorphisms, DEHAL1c.678 T> C (p.C265R) and DEHAL1 c.679 G> A (p.R265H), were found in 5 patients and 4 patients, respectively. Conclusion In Shandong province congenital hypothyroidism with goiter patients, the DEHAL1 gene mutation rate may not be the main cause of congenital hypothyroidism with goiter in the region.