目的:针对体检证实有促甲状腺激素水平增高、延续性足月产新生儿呼吸窘迫、持久性共济失调、构音障碍和发育迟滞等病变的两组异父(母)同胞,研究其NKX2-1基因突变情况。方法:采集患者及其未患病同胞的血液样本或口腔拭子,提取DNA样品,对特异性片段进行扩增和序列分析。结果:在患病个体与其母亲和外祖母的DNA序列中,发现NKX2-1基因发生突变, 导致外显子2和3不能相互拼接;但是,在患者的未患病同胞体内,未发现上述基因的突变现象。这种突变以杂合子形式存在,因而,可解释相关疾病的表现型。结论:NKX2-1基因突变体的常染色体显性遗传机制,可造成患者家族内多代多个体发生先天性甲状腺机能减 OBJECTIVE: To investigate the relationship between NKX2-NKX2-NKX2 and NKX2-T lymphocyte subsets in two groups of offspring who were confirmed to have elevated thyroid stimulating hormone level, persistent full-life neonatal respiratory distress, persistent ataxia, dysarthria and delayed development, 1 gene mutation situation. METHODS: Blood samples or oral swabs from patients and their non-affected siblings were collected, DNA samples were extracted, and specific fragments were amplified and sequenced. RESULTS: Mutations in the NKX2-1 gene were found in the DNA sequences of diseased individuals, their mothers and their grandmothers, resulting in the inability of splicing of exons 2 and 3 to each other; however, none of the above genes were found in the patient’s unaffected siblings Mutation phenomenon. This mutation exists as a heterozygous form, thus explaining the phenotype of the related disease. Conclusion: The autosomal dominant genetic mechanism of NKX2-1 gene mutation can result in congenital hypothyroidism