Objective: Metabolic syndrome ( MS ) is characterized by abdominal obesity, hypertension,dyslipidemia, and glucose intolerance. It is a combination of these disorders that increase the risk of cardiovasculardisease an...
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Objective: Metabolic syndrome ( MS ) is characterized by abdominal obesity, hypertension,dyslipidemia, and glucose intolerance. It is a combination of these disorders that increase the risk of cardiovasculardisease and type 2 diabetes mellitus ( T2DM ) . Recently, novel risk loci for T2DM, single nucleotidepolymorphism( SNP ) rs290487 in transcription factor 7-like 2 ( TCF712 ) , rs9465871 in cyclin-dependent kinase 5( CDK5 ) regulatory subunit associated protein 1-like 1 ( CDKAL1 ) , rs1359790 in chromosome 13q31.1 wereidentified in Chinese populations. However, evidence of functions of the three above mentioned SNPs is relativelyscarce, especially in Chinese populations. In addition, application of the above T2DM susceptibility SNPs forthe prevention of metabolic syndrome in healthy populations has not yet been examined. Conclusion: We conclude that markers located within the genes TCF712-rs290487, CDKALl rs9465871 and 13q31.1-rs1359790 are neither associated with metabolic syndrome nor metabolic profiles related to this syndrome in a samplefrom Shanghai. And, the risk allele of rs9465871 is significantly associated with elevated HbA1c levels in non-diabeticfemales. The present study may shed some new light on biological pathways of the above gene polymorphisms by whichconferring risk to T2DM in Chinese population. More and larger sample size studies are needed to confirm our results.
目的耳聋是临床上常见的出生缺陷,每1000名活产儿中便有1-3名新生聋儿。幼儿期是大脑语言中枢发育的重要时期,在这一时期未获得充分的听觉刺激及语言接触的孩童将面临语言学习及社会交往等障碍。因而,在新生儿群体中开展耳聋基因携带率与突变谱调查,为开展新生儿听力及耳聋基因联合筛查提供调研数据。方法以微阵列芯片法对5601名在我院出生的新生儿进行遗传性耳聋基因筛查,检测范围包括GJB2基因、GJB3基因、SLC26A4基因、线粒体DNA 12S r RNA等基因上的中国人群常见致聋突变位点。结果 5601名新生儿中193例携带遗传性耳聋基因突变,携带率为3.44%。其中,GJB2基因突变携带者117位,GJB3基因突变携带者7位,SLC26A4基因突变携带者62位,线粒体DNA 12S r RNA基因突变携带者7位。根据新生儿耳聋基因检测结果,结合听力筛查结果,为受检者家庭提供遗传咨询。结论新生儿听力与聋病易感基因独立筛查存在局限性,联合检测将明显提高检出率,对听障患儿的早诊早治具有重要意义。调查新生儿群体中耳聋基因携带率与突变谱情况,为开展新生儿听力及耳聋基因联合筛查提供重要的调研数据。
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