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目的研究先天性甲状腺功能减低症(简称先天性甲低,CH)伴甲状腺肿大患儿甲状腺球蛋白(thyroglobulin,TG)基因突变类型及特点,为基因诊断提供理论依据。方法对2012年1月至8月青岛市妇女儿童医院11例经新生儿筛查确诊为先天性甲低伴甲状腺肿患儿,采用PCR扩增并直接测序的方法,对TG基因的外显子7、14、22、33、38进行基因突变检测,结合测序验证及生物信息学分析,研究TG基因突变类型及特点。结果在11例先天性甲低伴甲状腺肿患儿中,没有发现TG基因突变,分别在1例患儿和6例患儿中发现TGc.3218-81T>G(rs853324,纯合)和c.3218-81T>G(rs853324,杂合)两个单核苷酸多态性位点。结论青岛地区先天性甲低伴甲状腺肿大患儿中,TG基因突变率极低,可能不是该地区先天性甲低伴甲状腺肿大的突变热点基因。
Objective To investigate the types and characteristics of thyroglobulin (TG) mutations in children with congenital hypothyroidism (CHD) and thyroid enlargement, and to provide a theoretical basis for gene diagnosis. Methods From January to August 2012, 11 cases of Qingdao Children’s Hospital were diagnosed as congenital hypothyroidism with thyroid goiter through neonatal screening. PCR amplification and direct sequencing were used to detect the exon of TG gene 7,14,22,33,38 gene mutation detection, combined with sequencing validation and bioinformatics analysis of TG gene mutation types and characteristics. Results No TG gene mutation was found in 11 cases of congenital hypothyroidism with goiter. TGc.3218-81T> G (rs853324, homozygous) and c were found in 1 case and 6 cases. 3218-81T> G (rs853324, heterozygous) two single nucleotide polymorphisms. Conclusion The mutation rate of TG gene in children with congenital hypothyroidism and goiter in Qingdao area is very low, which may not be the hotspot gene of congenital hypothyroidism with goiter in this area.