Molecular newborn screening for four genetic diseases in Guizhou Province
作者单位：Department of LaboratoryGuizhou Provincial People's Hospital Department of gynaecology and obstetricsGuizhou Provincial People' s Hospital
会议名称：《第十四次全国医学遗传学学术会议》
会议日期：2015年
学科分类：1002[医学-临床医学] 100202[医学-儿科学] 10[医学]
摘 要：Mendelian disease is still the major genetic disorders happen in China,especially in the rural *** there is still not much prevalence data regarding many single-genedisorders in Guizhou Province located in the south western part of *** the present study,we performed a molecular newborn screening for four genetic disorders,including Beta-thalassemia(β-thal),glucose-6-phosphate dehydrogenase(G6PD)deficiency,phenylketonuria(PKU),and non-syndromic hearing loss and deafness(NSHL).A total of 515 newborns were genotyped by matrix-Assisted laser desorption/ionization time of flight mass spectrometry(MALDI-TOF MS).Thirty samples were confirmed by Sanger sequencing for the mutations *** result shows that 48 out of 515 newborns were diseases allele carriers,with a frequency of 1 in 11(9.32%).The carrier frequencies ofβ-thal,G6PD,PKU and NSHL were 2.72%,1.94%,0.78%and 4.47%,*** genotyping results of these 30 randomly selected samples genotyped by MALDI-TOF MS were totally concordant with Sanger sequencing *** is the first study which reveals carrier frequencies for these four diseases in Guizhou *** data are of great use for the genetic counseling and disease prevention in Guizhou Province.