目的分析一个常染色体显性遗传性耳聋家系临床及遗传学表型,并筛查常见耳聋致病基因。方法通过调查问卷、体格检查、听力学检测,完成该湖南籍耳聋家系的临床资料采集,绘制家系遗传图谱,分析其听力学及遗传学特征,对最常见的GJB2,SLC26A4...目的分析一个常染色体显性遗传性耳聋家系临床及遗传学表型,并筛查常见耳聋致病基因。方法通过调查问卷、体格检查、听力学检测,完成该湖南籍耳聋家系的临床资料采集,绘制家系遗传图谱,分析其听力学及遗传学特征,对最常见的GJB2,SLC26A4和12S r RNA共3个耳聋基因八个位点以及线粒体DNA全组序列进行初步筛查。结果该家系共5代,现存家系成员35人,耳聋患者10人,除两人发病较晚,余均为自幼发病,听力曲线呈盆覆型,造成部分言语功能障碍,进展性加重,起初为中频受累,随着年龄的增长,以后逐渐累积高低频,表现为全频听力损失,发展为重度-极重度耳聋。对候选致病基因突变筛查,未发现致病突变。结论该耳聋家系符合常染色体显性遗传规律,进一步将通过新一代测序全外显子测序技术对其致病基因进行探索。展开更多
目的:报道一个腓骨肌萎缩症2型(CM T 2)大家系。方法:对家系中所有成员进行详细的体格检查,6名患者进行肌电图和神经传导速度检查,先证者进行腓肠神经活检,采用高度多态性短串联重复(STR)法检测PM P 22基因大片段重复突变,对PM P 22、M...目的:报道一个腓骨肌萎缩症2型(CM T 2)大家系。方法:对家系中所有成员进行详细的体格检查,6名患者进行肌电图和神经传导速度检查,先证者进行腓肠神经活检,采用高度多态性短串联重复(STR)法检测PM P 22基因大片段重复突变,对PM P 22、M PZ和NEFL基因编码区致病突变,采用聚合酶链式反应-单链构象多态(PCR-SSCP)技术结合DNA测序进行检测。最后对该家系进行全基因组扫描。结果:除了2名患者同时有下肢近端和远端肌肉萎缩和无力外,所有患者都表现为不同程度的以下肢为重的肢体远端肌肉萎缩和无力,轻到中度的感觉障碍。6名患者正中神经运动神经传导速度都正常,肌电图检查均可见巨大运动单元电位、纤颤电位和正锐波,腓肠神经活检证实为轴突型周围神经病。STR法未检测到PM P 22基因大片段重复突变,PCR-SSCP技术未检测到PM P 22、M PZ和NEFL基因编码区致病突变。全基因组扫描最终将其疾病基因定位在12q24.2-q24.3。结论:检查结果符合CM T 2型的诊断,该家系是一种罕见的CM T 2亚型。展开更多
Mapping and identification of disease associated genes will demonstrate the genetic basis for the human geneticdisorders, and provide the fundamental data for elucidation of pathogenesis mechanismof the disorders. Gen...Mapping and identification of disease associated genes will demonstrate the genetic basis for the human geneticdisorders, and provide the fundamental data for elucidation of pathogenesis mechanismof the disorders. Genetic re-sources, including pedigree information, blood sample, and tissues, etc., are essential materials for finding of thelinked locus and gene for certain genetic disease. Genome wide scanning, positional cloning and candidate ap-proach are most widely used methods or strategy, by which, thousands of diseases responsible genes have been i-dentified. National laboratory of medical genetics of China (NLMG) has initiated the study on genetic resourcescollection, mapping and identification of disease associated gene since 1970s, here we summarize the major find-ings in this area achieved by NLMG.展开更多
基金supported by Scholarship Award for Excellent Doctoral Student granted by Ministry of Education of China and National Basic Research Program of China(2010CB529601&2012CB517902)
文摘目的分析一个常染色体显性遗传性耳聋家系临床及遗传学表型,并筛查常见耳聋致病基因。方法通过调查问卷、体格检查、听力学检测,完成该湖南籍耳聋家系的临床资料采集,绘制家系遗传图谱,分析其听力学及遗传学特征,对最常见的GJB2,SLC26A4和12S r RNA共3个耳聋基因八个位点以及线粒体DNA全组序列进行初步筛查。结果该家系共5代,现存家系成员35人,耳聋患者10人,除两人发病较晚,余均为自幼发病,听力曲线呈盆覆型,造成部分言语功能障碍,进展性加重,起初为中频受累,随着年龄的增长,以后逐渐累积高低频,表现为全频听力损失,发展为重度-极重度耳聋。对候选致病基因突变筛查,未发现致病突变。结论该耳聋家系符合常染色体显性遗传规律,进一步将通过新一代测序全外显子测序技术对其致病基因进行探索。
文摘目的:报道一个腓骨肌萎缩症2型(CM T 2)大家系。方法:对家系中所有成员进行详细的体格检查,6名患者进行肌电图和神经传导速度检查,先证者进行腓肠神经活检,采用高度多态性短串联重复(STR)法检测PM P 22基因大片段重复突变,对PM P 22、M PZ和NEFL基因编码区致病突变,采用聚合酶链式反应-单链构象多态(PCR-SSCP)技术结合DNA测序进行检测。最后对该家系进行全基因组扫描。结果:除了2名患者同时有下肢近端和远端肌肉萎缩和无力外,所有患者都表现为不同程度的以下肢为重的肢体远端肌肉萎缩和无力,轻到中度的感觉障碍。6名患者正中神经运动神经传导速度都正常,肌电图检查均可见巨大运动单元电位、纤颤电位和正锐波,腓肠神经活检证实为轴突型周围神经病。STR法未检测到PM P 22基因大片段重复突变,PCR-SSCP技术未检测到PM P 22、M PZ和NEFL基因编码区致病突变。全基因组扫描最终将其疾病基因定位在12q24.2-q24.3。结论:检查结果符合CM T 2型的诊断,该家系是一种罕见的CM T 2亚型。
基金supported by the Major State Basic Research Development Program of China("973" Program)(2011CB510000)the National Natural Science Foundation of China(81200870,81000542,81130021,81361120404,81171198,30900469,81371405)
文摘目的:SLC18A2基因的P387L突变在中国汉族散发性帕金森病人群的关联研究。方法:在931例汉族人群中(包括455例散发性帕金森病患者和476例正常对照者)应用飞行时间质谱分析(matrix-assisted laser desorption/ionizationtime-of-flight mass spectrometry,MALDI-TOF MS)技术测定P387L基因型,并应用Sanger测序的方法对结果进一步验证。同时采用病例-对照研究,探索该突变与散发性帕金森病的关联。结果:在本组931个研究个体中均未发现该突变位点。结论:该突变位点在中国汉族人群中很罕见,可能并非中国汉族散发性帕金森病人群的致病突变位点,该突变位点与帕金森病之间的关联尚需扩大样本及在其他种族人群中进行验证。
文摘Mapping and identification of disease associated genes will demonstrate the genetic basis for the human geneticdisorders, and provide the fundamental data for elucidation of pathogenesis mechanismof the disorders. Genetic re-sources, including pedigree information, blood sample, and tissues, etc., are essential materials for finding of thelinked locus and gene for certain genetic disease. Genome wide scanning, positional cloning and candidate ap-proach are most widely used methods or strategy, by which, thousands of diseases responsible genes have been i-dentified. National laboratory of medical genetics of China (NLMG) has initiated the study on genetic resourcescollection, mapping and identification of disease associated gene since 1970s, here we summarize the major find-ings in this area achieved by NLMG.
基金supported by 11th 5-Year Plan(2007BAI18B13)the National Natural Science Foundation of China(30671150+1 种基金81170923)“863”Program(2007AA02Z445),P.R.China
