咸阳区0-14岁儿童发育异常情况调查及遗传因素分析
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摘要
目的抽样调查咸阳区0-14岁儿童发育异常情况,并对父母家族遗传史进行调查,分析儿童发育异常类别与遗传因素间的相关性,以期为优生优育遗传咨询提供参考。方法 2014年1月-2017年1月对咸阳区25 000位0-14岁儿童发育异常情况进行调查,了解生长发育异常发生率、发现时年龄、发现途径、生长发育异常类别(体格发育异常:低体质量、超重和肥胖、生长发育迟缓、贫血等;内分泌发育异常:性早熟、甲状腺功能低下、Angelman综合征、Turner综合征、Miller—Dieker综合征、垂体性侏儒、特发性矮小等,行为发育异常:行为偏离、行为智能异常(ADHD、LD、MR、抽动障碍、语言和言语障碍、广泛发育障碍等)及构成情况、分析其是否属于遗传基因异常导致,遗传因素类别(主要基因、特异性基因和染色体畸变)情况。分析儿遗传因素导致童生长发育异常的特点。结果 25 000位0-14岁儿童中生长发育异常1825例,发生率为7.30%。以行为发育异常为主,其次为体格发育不良为主,内分泌发育异常率较低。遗传相关检测明确与行为发育异常相关者17例,占比1.41%,体格发育异常儿童遗传因素异常16例,占比10.81%,内分泌发育异常儿童遗传因素26例,占比12.87%。遗传因素导致体格发育异常、行为发育异常、内分泌异常儿童占比存在明显差异(P<0.05),以内分泌占比最高,体格发育其次。体格发育异常儿童遗传因素以主要基因变异为主,内分泌发育异常儿童以特异性基因变异为主,行为发育异常儿童以染色体畸形为主,三类发育异常儿童遗传因素构成比差异有统计学意义(P<0.05)。不同类型发育异常儿童确诊时年龄差异有统计学意义(P<0.05),以内分泌发育异常年龄最大,体格发育异常儿童确诊年龄最小。确诊时家长发现有发育异常临床症状率比较差异有统计学意义(P<0.05),以体格发育异常儿童出现临床症状率最高,行为发育异常儿童出现临床症状率最低。结论遗传因素导致的儿童发育异常中所占比例虽然不是很大,但治疗难度大,而儿童健康危害大,做好孕前、孕期保健检查是降低遗传性儿童生长发育异常率的根本途径。
Objective:To investigate the abnormal development of children aged 0-14 years in Xianyang District,and to investigate the genetic history of parents' families,and to analyze the correlation between children's developmental abnormalities and genetic factors,in order to provide reference for genetic counseling of prenatal and postnatal care.Methods:From January 2014 to January 2017,25,000 children aged 0-14 years in Xianyang District were investigated for abnormal development,and the incidence of growth and development abnormalities,age at discovery,path of discovery,and abnormal growth and development(physical development abnormalities:Low body mass,overweight and obesity,growth retardation,anemia,etc.;endocrine dysplasia:precocious puberty,hypothyroidism,Angelman syndrome,Turner syndrome,Miller-Dieker syndrome,pituitary pygmy,idiopathic dwarf,etc.Behavioral dysplasia:behavioral deviation,behavioral intelligence abnormalities(ADHD,LD,MR,tic disorder,language and speech disorders,extensive developmental disorders,etc.)and composition,analysis of whether it belongs to genetic abnormalities,genetic factors(main genes,Specific gene and chromosomal aberrations.Analysis of the characteristics of pediatric genetic factors leading to abnormal growth and development of children.Results:1825 cases of abnormal growth and development in 25,000 children aged 0-14 years,the incidence rate was 7.30%.Secondly,the physique is mainly dysplasia,and the rate of endocrine development is low.The genetic correlation test is clear There were 17 cases of behavioral dysplasia,accounting for 1.41%,16 cases of genetic abnormalities in children with abnormal physical development,accounting for 10.81%,and 26 cases of genetic factors in children with endocrine abnormalities,accounting for 12.87%.Genetic factors lead to abnormal physical development and behavior The proportion of children with dysplasia and endocrine abnormalities was significantly different(P<0.05),with the highest proportion of endocrine and the second highest physical development.The genetic factors of children with abnormal physical development were mainly genetic mutations,and the specific genetic variation was observed in children with endocrine abnormalities.Mainly,children with behavioral dysplasia were mainly chromosomal abnormalities,and the genetic factors of children with three types of dysplasia were statistically significant(P<0.05).The age difference of children with different types of dysplasia was statistically significant(P<0.05).The age of endocrine dysplasia was the largest,and the child with abnormal dysplasia was the youngest.The difference in the clinical symptoms of dysplasia was statistically significant(P<0.05).The child with abnormal physical development had the highest clinical symptom rate.Children with dysplasia have the lowest clinical symptom rate.Conclusion:Although the proportion of children's developmental abnormalities caused by transmission factors is not very large,but the treatment is difficult,and children's health hazards are great.Doing pre-pregnancy and pregnancy health check is the fundamental way to reduce the abnormal growth rate of hereditary children.
Objective:To investigate the abnormal development of children aged 0-14 years in Xianyang District,and to investigate the genetic history of parents' families,and to analyze the correlation between children's developmental abnormalities and genetic factors,in order to provide reference for genetic counseling of prenatal and postnatal care.Methods:From January 2014 to January 2017,25,000 children aged 0-14 years in Xianyang District were investigated for abnormal development,and the incidence of growth and development abnormalities,age at discovery,path of discovery,and abnormal growth and development(physical development abnormalities:Low body mass,overweight and obesity,growth retardation,anemia,etc.;endocrine dysplasia:precocious puberty,hypothyroidism,Angelman syndrome,Turner syndrome,Miller-Dieker syndrome,pituitary pygmy,idiopathic dwarf,etc.Behavioral dysplasia:behavioral deviation,behavioral intelligence abnormalities(ADHD,LD,MR,tic disorder,language and speech disorders,extensive developmental disorders,etc.)and composition,analysis of whether it belongs to genetic abnormalities,genetic factors(main genes,Specific gene and chromosomal aberrations.Analysis of the characteristics of pediatric genetic factors leading to abnormal growth and development of children.Results:1825 cases of abnormal growth and development in 25,000 children aged 0-14 years,the incidence rate was 7.30%.Secondly,the physique is mainly dysplasia,and the rate of endocrine development is low.The genetic correlation test is clear There were 17 cases of behavioral dysplasia,accounting for 1.41%,16 cases of genetic abnormalities in children with abnormal physical development,accounting for 10.81%,and 26 cases of genetic factors in children with endocrine abnormalities,accounting for 12.87%.Genetic factors lead to abnormal physical development and behavior The proportion of children with dysplasia and endocrine abnormalities was significantly different(P<0.05),with the highest proportion of endocrine and the second highest physical development.The genetic factors of children with abnormal physical development were mainly genetic mutations,and the specific genetic variation was observed in children with endocrine abnormalities.Mainly,children with behavioral dysplasia were mainly chromosomal abnormalities,and the genetic factors of children with three types of dysplasia were statistically significant(P<0.05).The age difference of children with different types of dysplasia was statistically significant(P<0.05).The age of endocrine dysplasia was the largest,and the child with abnormal dysplasia was the youngest.The difference in the clinical symptoms of dysplasia was statistically significant(P<0.05).The child with abnormal physical development had the highest clinical symptom rate.Children with dysplasia have the lowest clinical symptom rate.Conclusion:Although the proportion of children's developmental abnormalities caused by transmission factors is not very large,but the treatment is difficult,and children's health hazards are great.Doing pre-pregnancy and pregnancy health check is the fundamental way to reduce the abnormal growth rate of hereditary children.
引文
[1]张杨洋,王文军.中国汉族人群AIS遗传病因学研究进展[J].海南医学,2018,29(12):1712-1717.
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[4]黎丽芬.从遗传角度浅析影响人类优生的要素[J].中国现代药物应用,2017,11(09):55-57.
[5]武艾宁,赵晓曦,于荣鑫.性发育异常病人染色体异常的检出率分析[J].内蒙古医科大学学报,2017,39(01):1-5.
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[8]何海燕.中西医结合治疗骨髓增生异常综合征疗效与遗传及免疫学相关性分析[D].北京中医药大学,2016.
[9]董琬如,余莉莉,陈明会,孔祥阳.SOX9基因变异引起的性别发育异常研究进展[J].中国计划生育学杂志,2016,24(04):270-273.
[10]王菲,陶海,韩毳.先天泪道发育不全的临床特征和致病基因的研究进展[J].中国中医眼科杂志,2016,26(02):131-136.
[11]孙辉,熊敏,王淑媛,谢纲.世界首报染色体异常核型的临床遗传学研究[J].中国优生与遗传杂志,2016,24(02):63-65.
[12]李雨雷.四个婴儿眼球震颤综合征家系的分子遗传学研究[D].华中科技大学,2016.
[13]张桂兰,黄志华,张茂芬,郑红枫.被动吸烟孕妇胎儿GSTM1、GSTT1及CYP1A1基因多态性对胎儿出生畸形的影响[J].中国优生与遗传杂志,2015,23(11):17-19+23.
[14]李焕铮.二代测序技术在骨骼发育异常基因诊断中的应用[A].浙江省医学会医学遗传学分会、浙江大学医学院附属妇产科医院.2015年浙江省医学遗传学学术年会暨高通量基因测序产前筛查与诊断技术研讨会论文汇编[C].浙江省医学会医学遗传学分会、浙江大学医学院附属妇产科医院,2015:1.
[15]李容.流感病毒致心脏发育异常的表观遗传分子机制研究[D].湖南师范大学,2014.
[2]刘荷,吴庆华,史惠蓉.46,XY女性性发育异常的遗传学病因研究进展[J].国际生殖健康/计划生育杂志,2017,36(06):492-497.
[3]刘妍,吴青青,于松.胎儿骨骼发育不良分子遗传学进展[J].福建医科大学学报,2017,51(04):267-274.
[4]黎丽芬.从遗传角度浅析影响人类优生的要素[J].中国现代药物应用,2017,11(09):55-57.
[5]武艾宁,赵晓曦,于荣鑫.性发育异常病人染色体异常的检出率分析[J].内蒙古医科大学学报,2017,39(01):1-5.
[6]胡昊.Rho鸟苷酸交换因子缺陷引起小头畸形、中后脑发育异常和智力低下[A].中华医学会、中华医学会医学遗传学分会、中国医师协会医学遗传医师分会、中国遗传学会人类与医学遗传专业委员会.中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会论文汇编[C].中华医学会、中华医学会医学遗传学分会、中国医师协会医学遗传医师分会、中国遗传学会人类与医学遗传专业委员会:,2016:1.
[7]范宪楠.313例发育异常与1882例生殖异常患者染色体核型分析[D].山东大学,2016.
[8]何海燕.中西医结合治疗骨髓增生异常综合征疗效与遗传及免疫学相关性分析[D].北京中医药大学,2016.
[9]董琬如,余莉莉,陈明会,孔祥阳.SOX9基因变异引起的性别发育异常研究进展[J].中国计划生育学杂志,2016,24(04):270-273.
[10]王菲,陶海,韩毳.先天泪道发育不全的临床特征和致病基因的研究进展[J].中国中医眼科杂志,2016,26(02):131-136.
[11]孙辉,熊敏,王淑媛,谢纲.世界首报染色体异常核型的临床遗传学研究[J].中国优生与遗传杂志,2016,24(02):63-65.
[12]李雨雷.四个婴儿眼球震颤综合征家系的分子遗传学研究[D].华中科技大学,2016.
[13]张桂兰,黄志华,张茂芬,郑红枫.被动吸烟孕妇胎儿GSTM1、GSTT1及CYP1A1基因多态性对胎儿出生畸形的影响[J].中国优生与遗传杂志,2015,23(11):17-19+23.
[14]李焕铮.二代测序技术在骨骼发育异常基因诊断中的应用[A].浙江省医学会医学遗传学分会、浙江大学医学院附属妇产科医院.2015年浙江省医学遗传学学术年会暨高通量基因测序产前筛查与诊断技术研讨会论文汇编[C].浙江省医学会医学遗传学分会、浙江大学医学院附属妇产科医院,2015:1.
[15]李容.流感病毒致心脏发育异常的表观遗传分子机制研究[D].湖南师范大学,2014.
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