摘要
目的 了解桂林地区新生儿疾病筛查情况,并为本地区新生儿遗传代谢病的防治提供更全面的科学依据。方法 收集2017年1月至2023年12月桂林市新生儿疾病筛查中心311192例新生儿血促甲状腺素(TSH)及苯丙氨酸(Phe)检测资料,统计不同年份的新生儿筛查率、区县和民族HPA和CH的发病率,并探讨HPA的基因型和表型关系。结果 在311192例新生儿中,确诊HPA患儿8例,发病率0.26/10000;确诊CH患儿118例,发病率3.79/10000。按地域分析,兴安县HPA发病率最高(0.93/10000),龙胜县CH发病率最高(5.35/10000);按民族分析,瑶族HPA发病率最高(1.57/10000),侗族CH发病率最高(13.57/10000)。7例患者共发现12种突变,其中中国人群苯丙氨酸羟化酶(PAH)基因常见突变c.728G>A、c.721C>T、c.1238G>C、c.1223G>A占33.3%,中国6-丙酮酰四氢蝶呤合成酶(PTS)基因热点变异c.155A>G、c.259C>T和c.84-291A占25.0%,其余均为低频突变。结论 桂林地区不同地域和民族2种疾病的发病率均有差异。提高新生儿疾病筛查的广度和精度,联合基因检测有助于早期发现遗传代谢病,进一步降低出生缺陷,提高桂林地区人口素质。
Objective To understand the screening of neonatal diseases in Guilin area,and to provide a more comprehen-sive scientific basis for the prevention and treatment of neonatal inherited metabolic diseases in this area.Methods The detection data of thyroid stimulating hormone(TSH)and phenylalanine(Phe)in 311192 newborns in Guilin Neonatal Disease Screening Center from January 2017 to December 2023 were collected.The neonatal screening rate in different years,the incidence of HPA and CH in districts,counties and ethnic groups were counted,and the genotype and phenotype relationship of HPA were discussed.Results Among the 311192 newborns,8 cases were diagnosed with HPA,and the incidence rate was 0.26/10000.118 children with CH were diagnosed,and the incidence rate was 3.79/10000.According to regional analysis,the incidence of HPA in Xing'an County was the highest(0.93/10000),and the incidence of CH in Longsheng County was the highest(5.35/10000).According to the ethnic analysis,the incidence of HPA was the highest in Yao nationality(1.57/10000),and the incidence of CH was the highest in Dong nationality(13.57/10000).A total of 12 mutations were found in 7 patients.Among them,the common mutations of phenylalanine hydroxylase(PAH)gene c.728G>A,c.721C>T,c.1238G>C and c.1223G>A accounted for 33.3%in Chinese population.The hot spot mutations of 6-pyruvyltetrahydropterin synthase(PTS)gene c.155A>G,c.259C>T and c.84-291 A accounted for 25.0%,and the rest were low frequency mutations.Conclusion There are differences in the incidence of the two diseases in different regions and nationalities in Guilin.To improve the breadth and accuracy of neonatal disease screening,combined gene detection is helpful for early detection of genetic metabolic diseases,further reduction of birth defects,and improvement of population quality in Guilin.
作者
胡卫
蒋群芳
邓俊耀
HU Wei;JIANG Qunfang;DENG Junyao(Guilin Maternal and Child Health Hospital,Guilin,Guangxi 541002,China)
出处
《中国优生与遗传杂志》
2024年第7期1471-1474,共4页
Chinese Journal of Birth Health & Heredity
