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目的研究山东地区先天性甲状腺功能减退(CH)伴甲状腺肿大患儿TPO基因突变类型及特点,为基因诊断及产前诊断提供理论依据。方法对20例经新生儿筛查确诊为CH伴甲状腺肿大患者,采用PCR扩增与直接测序的方法,对TPO基因全部外显子进行基因突变检测。结果在20例患者中未发现TPO基因突变,但是发现4个SNP位点,分别c.2540 T>C(p.V847A),c.2029 G>A(p.V677I),c.12 C>G(p.L4L)以及c.1998 C>T(p.D666D)。结论山东地区TPO基因的突变率低,不是先天性甲减的主要突变类型。
Objective To study the types and characteristics of TPO gene mutations in children with congenital hypothyroidism (CH) and thyroid enlargement in Shandong Province and to provide theoretical basis for gene diagnosis and prenatal diagnosis. Methods Twenty patients diagnosed as CH with thyroid enlargement by neonatal screening were enrolled. All the exons of TPO gene were detected by PCR amplification and direct sequencing. Results No TPO gene mutation was found in 20 patients, but four SNPs were found, including c.2540 T> C (p.V847A), c.2029 G> A (p.V677I), c.12 C> G (p.L4L) and c.1998 C> T (p.D666D). Conclusion The mutation rate of TPO gene in Shandong province is low, which is not the main type of congenital hypothyroidism.