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目的检测20例先天性甲状腺功能减低症(CH)患儿二元氧化酶2(DUOX2)基因突变。方法抽取20例CH患儿外周血并提取DNA,用wafergen验证技术检测先证者甲状腺过氧化物酶(TPO)基因、二元氧化酶2(DUOX2)基因和二元氧化酶成熟因子2(DUOXA2)基因。PCR扩增先证者DUOX2基因突变所在的外显子区域,以DNA测序技术检测DUOX2基因突变,并对发现突变的部分CH患儿父母进行对照分析。结果 7例CH患儿存在6种DUOX2基因突变,分别为c.1588A>T[p.Lys530X]、c.2033A>G[p.His678Arg]、c.4027C>T[p.Leu1343Phe]、c.2048G>T[p.Arg683Leu]、c.3200C>T[p.Ser1067Leu]、c.1708C>T[p.Gln570X],其中c.1708C>T[p.Gln570X]为1种新突变。结论中国人群CH患儿存在较高频率的DUOX2基因突变。
Objective To detect the gene mutation of DUOX2 in 20 children with congenital hypothyroidism (CH). Methods Peripheral blood samples from 20 children with CH were collected and DNA was extracted. The thyroid peroxidase (TPO) gene, DUOX2 gene and binary oxidase maturation factor 2 (DUOXA2) )gene. PCR amplification of proband DUOX2 gene mutation in exon region, detection of DUOX2 gene mutation by DNA sequencing technology, and found that mutations in some of the CH children with parental control analysis. Results There were 6 kinds of DUOX2 gene mutations in 7 children with CH, which were c.1588A> T [p.Lys530X], c.2033A> G [p.His678Arg], c.4027C> T [p.Leu1343Phe], c. 2048G> T [p.Arg683Leu], c.3200C> T [p.Ser1067Leu], c.1708C> T [p.Gln570X], where c.1708C> T [p.Gln570X] is a novel mutation. Conclusion There is a high frequency of DUOX2 gene mutations in children with CH in Chinese population.