湖北省17例罗伯逊易位患者染色体分析

郭虹; 唐文娟

湖北省17例罗伯逊易位患者染色体分析

郭虹¹,
唐文娟^2, ,

- 1. 湖北省妇幼保健院检验科(武汉, 430070);
- 2. 十堰市妇幼保健院妇保科

详细信息

通讯作者: 唐文娟,E-mail:2315926569@qq.com

中图分类号: R596

收稿日期: 2012-11-16

Robertsonian translocation and new human being comes into being-karyotype analysis of 17 cases of Robertsonian translocation in Hubei province

GUO Hong¹,
TANG Wenjuan^2, ,

- 1. Department of Clinical Liboratory, Hubei Maternal and Child Health Hospital, Wuhan, 430070, China;
- 2. Women's Health Department of Shiyan Maternal and Child Health Hospital

More Information

Corresponding author: TANG Wenjuan, E-mail: 2315926569@qq.com

Received Date: 16 November 2012

摘要

摘要: 目的：研究遗传咨询患者中罗伯逊易位的发生率及其对优生优育的影响，探讨罗伯逊易位与物种进化的关系。方法：回顾2011年送检的913例外周血标本，通过染色体培养技术，G显带，显微镜下进行核型分析。结果：913例遗传咨询患者，就诊原因主要为胎儿畸形、体格或智力发育迟缓及不良孕产史等，共检出罗伯逊易位17例，检出率为1.86%（17/913），并发现罗伯逊易位家系1例，申报世界首报核型1例。结论：罗伯逊易位是导致胎儿畸形、智力低下、不良孕产史等疾病的重要原因之一，检出罗伯逊易位携带者并对他们进行生育指导是十分必要的；同时，罗伯逊易位也可为物种的进化提供选择材料。
- 遗传咨询 /
- 染色体 /
- 罗伯逊易位 /
- 双罗伯逊易位
Abstract: Objective: To study the rate of Robertsonian translocation of genetic consultant and it's effect to prepotency,discuss the connection of Robertsonian translocation and evolvement.Method: Nine hundred and thirteen cases(from 2004 to 2006) genetic consultant of Hubei Materal and Child Health Hospital were detected by lymphocyte chromosome G-banding method in peripheral blood.Result: From the 913 cases genetic consultant(the main reasons of their consuling were deformed fetus,mental or physical retardetion,sexual development abnormity,primary or secondum amenorrhea,spontaneous abortion and stillbirth history),we detected 17 Robertsonian translocation cases.This kind abnomal karyotype took up 1.86%(17/913).We found a ancestry of Robertsonian translocation.Conclusion: Robertsonian translocation is a considerable reasion for deformed fetus,mental or physical retardetion,sexual development abnormity,spontaneous abortion and stillbirth history.Detect the carriers of Robertsonian translocation and give proper suggestions to them are necessary for the genetics consultant,at the same time,Robertsonian translocation provide the material for evolvement.
- genetic consuling /
- chronmosome /
- robertsonian translocation /
- diplorobertsonian translocation

HTML全文

参考文献(16)

[1]	夏家辉,李麓芸.染色体病[M].北京:科学出版社,1989:1-369.
[2]	陈秀珍,左极.医学遗传学[M].上海医科大学出版社,1994:135.
[3]	REDI C A,CAPANNA E,Robertsonian heterozygotes in the house mouse and the fate of their germ cells.Ch.7.In:Daniel,A.(ed):The cytogenetics of mammalian autosomal rearrangements[M].New York,Alan R Liss,1988:315-359.
[4]	ELDER F F B,HSU T C.Tandem fusions in the evolution of mammalian chromosomes.Ch.14.In:Sandberg AA (ed) The cytogenetics of mammalian autosomal rearrangements[M].New York,Alan R.Liss,1988:481-506.
[5]	SEARLE J B.Selection and Robertsonian variation in nature:The case of the common shrew.In:A.Daniel (ed):The cytogenetics of mammalian autosomal rearrangements[M].New York,Alan R.Liss,1988:507-531.
[6]	杜传书,刘祖洞.医学遗传学[M].2版.北京:人民卫生出版社,1992:166-230.
[7]	李曼.13例罗伯逊易位分析[J].中国优生与遗传杂志,2001,9(6):40-40.
[8]	王世雄,等.染色体平衡易位与优生研究[J].临床儿科杂志,2002,20(9):520-520.
[9]	GHOSH P,BANERJEE M,DE CHAUDHURI S,et al.Increased chromosome aberration frequencies in the Bowen's patients compared to non-cancerous skin lesions individuals exposed to arsenic[J].Mutation Research/Genetic Toxicology and Environmental Mutagenesis,2007,632:104-110.
[10]	YAMADA S,DURANTE M,ANDO K,et al.Complex-type chromosomal exchanges in blood lymphocytes during radiation therapy correlate with acute toxicity[J].Cancer Letters,2000,150:215-221.
[11]	MATEUCA R,LOMBAERT N,AKA PV,et al.Chromosomal changes:induction,detection methods and applicability in human biomonitoring[J].Biochimie,2006,88:1515-1531.
[12]	BAKER R J,BICKHAM J W.Speciation by monobrachial centric fusions[J].Proc Natl Acad Sci U S A,1986,83:8245-8248.
[13]	CORTI M,CAPANNA E,ESTABROOK G.Microevolutionary sequences in house mouse chromosomal speciation[J].Syst Zool,1986,35:163-175.
[14]	VORONTSOV N N.On the methodology of morphology and levels of morphologic analysis[J].Zh Obshch Biol,1989,50:737-745.
[15]	BRITTON-DAVIDIAN J,CATALAN J,DA DRACA RAMALHINHO M,et al.Rapid chromosomal evolution in island mice[J].Nature,2000,403:158-158.
[16]	WANG W,LAN H.Rapid and parallel chromosomal number reductions in muntjac deer inferred from mitochondrial DNA phylogeny[J].Mol Biol Evol,2000,17:1326-1333.