Screening of PAX8 mutations in Chinese patients with congenital hypothyroidism
Screening of PAX8 mutations in Chinese patients with congenital hypothyroidism
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DOI：
10.3275/8239
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发表时间：
2012-11-01
影响因子：
5.4
通讯作者：
Ma, X.
中科院分区：
文献类型：
--
作者：
Liu, S. G.;Zhang, S. S.;Ma, X.
背景：先天性甲状腺功能减退症（CH）是一种新生儿内分泌疾病，全球发病率为1:2000 ~ 1:4000。约85%的CH患者继发于甲状腺发育不良，但其发病机制尚不清楚。配对盒转录因子8 （PAX8）等甲状腺转录因子在甲状腺器官发生和发育中起着重要作用。目的：筛选中国CH患者PAX8突变，探讨中国PAX8突变特征。材料与方法：采集中国山东省300例CH患者血样，提取外周血白细胞基因组DNA。采用PCR和直接测序对PAX8基因外显子3、4进行分析。结果：300例CH患者PAX8基因分析显示，2例无亲缘关系患者PAX8基因存在杂合错义突变或变异；一个是已知的错义突变G92A，导致密码子31上的精氨酸被组氨酸取代，另一个是错义变异G122T，导致41号位置的甘氨酸被缬氨酸残基取代。R31H突变患者CH伴甲状腺发育不全，G41V突变患者CH伴甲状腺异位，甲状腺大小正常。结论：我们在300例无亲缘关系的中国CH患者中报道了2例PAX8杂合错义突变和变异，表明PAX8在中国CH患者中的突变率非常低。(j .性。投资管理。35:889-892,2012)(C) 2012，王晓明
Background: Congenital hypothyroidism (CH) is a neonatal endocrine disease with an incidence of 1:2000 to 1:4000 worldwide. In about 85% of patients CH is secondary to thyroid dysgenesis, but its pathogenesis remains unclear. Thyroid transcription factors, such as paired box transcription factor 8 (PAX8), play an important role in thyroid organogenesis and development. Aim: To screen PAX8 mutations in Chinese CH patients and characterize the features of PAX8 mutations in China. Materials and methods: Blood samples were collected from 300 CH patients in Shandong Province, China, and genomic DNA was extracted from peripheral blood leukocytes. Using PCR and direct sequencing, exon 3 and exon 4 of PAX8 were analyzed. Results: Analysis of PAX8 in 300 CH patients revealed heterozygous missense mutations or variations in two unrelated patients; one was a known missense mutation G92A, resulting in an arginine to histidine substitution at codon 31, the other was a missense variation G122T, resulting in the substitution of a glycine at position 41 by a valine residue. The patient with the R31H mutation had CH with thyroid hypoplasia, while the patient with the G41V variation had CH with a eutopic and normal-sized thyroid gland. Conclusion: We report a heterozygous missense mutation and a variation in PAX8 in two out of 300 unrelated Chinese CH patients, showing that the PAX8 mutation rate is very low in CH patients in China. (J. Endocrinol. Invest. 35: 889-892, 2012) (C) 2012, Editrice Kurtis