[Application of long range polymerase chain reaction and DNA direct sequencing in diagnosis of Rett syndrome].

雷特综合征 遗传学 MECP2 医学 外显子 聚合酶链反应 错义突变 突变 基因 分子生物学 生物 表型
作者
Meirong Li,Hong Pan,Xinhua Bao,Guangna Cao,Xi-ru Wu
出处
期刊:PubMed 卷期号:45 (8): 579-82
链接
标识
摘要

Rett syndrome (RTT, MIM 312750) is a progressive neurodevelopmental disorder that affects females almost exclusively, caused by mutations in MECP2 gene on chromosome Xq28, with symptoms such as autism, severe mental deficiency, deceleration of head growth, ataxia, loss of purposeful hand function and characteristic stereotypic hand movements. Over 80% MECP2 mutations located in the exon 3 and exon 4 were confirmed by our work and large-scale studies. RTT is defined based on clinical presentation. It is difficult to diagnose in the early life without definite biochemical abnormality, but genetic test is helpful for this. The aim of this study was to investigate the feasibility and clinical significance of applying long range polymerase chain reaction (PCR) to RTT diagnosis and establish a simple, economic, efficient method of genetic diagnosis.Genomic DNA was extracted using standard procedures from the peripheral blood leukocytes of each patient. Long range polymerase chain reaction(PCR)and DNA direct sequencing were employed to analyze the exon 3 and 4 of MECP2 gene simultaneity in 40 patients with RTT. The PCR products were checked by using 1.5% agarose gel.In total, 18 different MECP2 mutations were identified in 33 of the 40 diagnosed sporadic female patients with RTT. Missense mutations were 16, followed by 14 nonsense mutations and 3 deletions. The 314 base pairs large deletion was identified. The p. T158M mutation (21%, 7/33) was the most common, followed in order of frequency by p. R255X (12%, 4/33), p. R168X and p. R106W (9%, 3/33) respectively, p. R270X and p. Y141X (6%, 2/33) respectively, p. R133C, p. D156H, p. P157L, p. P225R, p. Q244X, p. Q262X, p. R294X, p. R306C, P322L, c. 1005del G, c.1005-1318del 314 bp and c.1127-1179del 53 bp (3%, 1/33), respectively.Long range PCR is a simple, economic, quick, precise method of genetic diagnosis and was able to find 83% MECP2 gene mutations in RTT patients in this study. It is helpful for RTT clinical diagnosis in early stage. On the other hand, it may detect recurrent mutations and large deletions at the same time.

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
PDF的下载单位、IP信息已删除 (2025-6-4)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
小小鱼完成签到 ,获得积分10
1秒前
1秒前
甜美砖家完成签到 ,获得积分10
3秒前
superspace完成签到,获得积分10
4秒前
nn发布了新的文献求助10
6秒前
求助完成签到,获得积分10
7秒前
8秒前
翁雁丝完成签到 ,获得积分10
15秒前
郭义敏完成签到,获得积分0
15秒前
gyf完成签到,获得积分10
18秒前
李保龙完成签到 ,获得积分10
19秒前
23秒前
LJJ完成签到 ,获得积分10
24秒前
量子星尘发布了新的文献求助10
27秒前
阿姨洗铁路完成签到 ,获得积分10
32秒前
抹不掉的记忆完成签到,获得积分10
34秒前
34秒前
余杭村王小虎完成签到,获得积分10
35秒前
韭黄完成签到,获得积分20
39秒前
jeffrey完成签到,获得积分10
39秒前
Rondab应助机灵枕头采纳,获得10
45秒前
佳无夜完成签到,获得积分10
50秒前
摆哥完成签到,获得积分10
54秒前
66完成签到,获得积分10
59秒前
zlqq完成签到 ,获得积分10
59秒前
Hardskills发布了新的文献求助10
1分钟前
1分钟前
之_ZH完成签到 ,获得积分10
1分钟前
gds2021完成签到 ,获得积分10
1分钟前
你好呀嘻嘻完成签到 ,获得积分10
1分钟前
梅特卡夫完成签到,获得积分10
1分钟前
熊雅完成签到,获得积分10
1分钟前
1分钟前
睡到自然醒完成签到 ,获得积分10
1分钟前
cis2014完成签到,获得积分10
1分钟前
独特的大有完成签到 ,获得积分10
1分钟前
量子星尘发布了新的文献求助10
1分钟前
1分钟前
xingyi完成签到,获得积分10
1分钟前
1分钟前
高分求助中
【提示信息,请勿应助】关于scihub 10000
Les Mantodea de Guyane: Insecta, Polyneoptera [The Mantids of French Guiana] 3000
徐淮辽南地区新元古代叠层石及生物地层 3000
The Mother of All Tableaux: Order, Equivalence, and Geometry in the Large-scale Structure of Optimality Theory 3000
Handbook of Industrial Diamonds.Vol2 1100
Global Eyelash Assessment scale (GEA) 1000
Picture Books with Same-sex Parented Families: Unintentional Censorship 550
热门求助领域 (近24小时)
化学 材料科学 医学 生物 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 遗传学 基因 物理化学 催化作用 冶金 细胞生物学 免疫学
热门帖子
关注 科研通微信公众号,转发送积分 4038112
求助须知:如何正确求助?哪些是违规求助? 3575788
关于积分的说明 11373801
捐赠科研通 3305604
什么是DOI,文献DOI怎么找? 1819255
邀请新用户注册赠送积分活动 892655
科研通“疑难数据库(出版商)”最低求助积分说明 815022