2233例生殖异常与371例发育异常患者染色体核型分析

发布时间：2018-05-04 03:36

本文选题：生殖异常 + 发育异常　；参考：《郑州大学》2013年硕士论文

【摘要】：研究背景和目的：生殖异常是患者进行遗传咨询时最多见的指征,包括胚胎停止发育、妊娠胎儿丢失、死胎、死产、畸形儿或智力低下儿以及不孕不育等。发育异常是指出生缺陷和青春期第二性征发育不良。出生缺陷是指孩子出生时就存在的胎儿形态结构、生理功能异常或代谢缺陷所致的异常,形态结构异常表现为先天畸形,如无脑儿、脊柱裂、兔唇、四肢异常等,生理功能和代谢缺陷常导致先天性智力低下、聋、哑等异常。第二性征异常者,见于女性,如身材矮小、原发闭经、性腺发育不良等,见于男性,如阴茎伴尿道下裂,小睾丸等。引起夫妻双方生殖异常、发育异常的病因复杂多样,其中一个最重要的原因即染色体异常。染色体是基因的载体,染色体异常很容易造成基因的异常,进而影响机体正常功能的发挥,形成一些遗传性疾病。染色体异常即染色体核型异常,主要包括常染色体异常、性染色体异常和染色体多态性,这三类染色体核型异常是染色体病形成的根本原因。研究对象：本研究选取2010年1月-2011年12月在河南省中医学院第一附属医院进行遗传咨询及细胞遗传学检查的生殖异常及发育异常患者共2604例。包括不良孕产史患者1803例,其中男性患者889例(年龄为21-51岁),女性患者914例(年龄为20-43岁)；不孕不育患者341例,其中男性患者176例(年龄为19-59岁),女性患者165例(年龄为19-41岁)；男性无精弱精症患者71例(年龄为18-45岁)；原发性闭经患者18例(年龄为18-29岁),社会性别均为女性；发育异常患者371例(年龄为1天-17岁),其中男性患者225例,女性患者146例。所有收集的患者均做G显带染色体核型分析。研究方法：本实验采用的技术为人类外周血淋巴细胞培养和染色体制备技术,染色体显带技术采用的是G显带。结果：对前来医院进行遗传咨询的2604例患者进行染色体G显带核型分析发现,具有染色体异常核型患者共249例,异常核型检出率为9.6%(249/2604)。其中不良孕产患者1803例,具有异常核型患者89例,异常核型检出率为4.9%(89/1803)；不孕不育患者341例,具有异常核型患者52例,异常核型检出率为15.2%(52/341)；无精弱精症患者71例,具有染色体异常核型患者25例,异常核型检出率为35.2%(25/71)；原发性闭经患者18例,具有染色体异常核型患者4例,异常核型检出率为22.2%(4/18)；发育异常患者371例,具有染色体异常核型患者79例,异常核型检出率为21.3%(79/371)。在所有检出的染色体异常核型中,常染色体异常共91例,异常核型检出率为36.5%(91/249)；性染色体异常共34例,异常核型检出率为13.7%(34/249)；染色体多态性核型共124例,异常核型检出率为49.8%(124/249)。结论： 1发现2例世界首报染色体异常核型,一例与自然流产相关,另一例可能与呼吸道疾病以及甲状腺功能低下有关。 2生殖异常和发育异常患者中染色体异常核型检出率均明显高于普通人群中的发生率,说明染色体核型异常与生殖异常和发育异常关系密切。 3常染色体异常核型中,染色体平衡易位核型占常染色体异常核型比例最大,是与流产、胚胎停育以及不孕不育相关的主要异常核型。 4性染色体异常核型中,克氏症仍是最常见的染色体疾病,是与男性无精／弱精子症相关的主要异常核型。
[Abstract]:Research background and purpose:
Reproductive abnormalities are the most common indications for genetic counseling in patients, including embryonic development, pregnancy loss, stillbirth, stillbirth, deformities or mental retardation, and infertility, etc. developmental abnormalities refer to birth defects and puberty secondary sexual development. Abnormalities caused by abnormal physiological functions or metabolic defects and abnormal morphological structures such as inbrain, spina bifida, lip and extremities, physiological functions and metabolic defects often lead to congenital mental retardation, deafness, and dumb abnormalities. The abnormal secondary sex signs are seen in women, such as short stature, primary amenorrhea, and dysplasia of the gonadal glands, etc. In men, such as penis with hypospadias, small testicles, and other reproductive abnormalities, the cause of abnormal development is complex and diverse, one of the most important reasons is chromosome abnormality.
Chromosomes are the carrier of genes, and chromosomal abnormality easily causes abnormal gene, and then affects the normal function of the body and forms some hereditary diseases. Chromosomal abnormality is abnormal chromosome karyotype, mainly including autosomal abnormality, sex chromosome abnormality and chromosome polymorphism, and the three types of chromosomal abnormalities are chromosomal diseases. The fundamental cause of the formation.
In this study, 2604 cases of reproductive abnormality and dysplasia were selected in the First Affiliated Hospital of Henan Institute of traditional Chinese medicine (-2011) in December January 2010, including 1803 cases of dysplasia and dysplasia, including 889 cases of male patients (age 21-51 years), and 914 female patients (age 20-43 years); infertile women. There were 341 patients, of which 176 were male (19-59 years of age), 165 (age 19-41), 71 cases of male azoospermia (age 18-45 years), 18 cases of primary amenorrhea (age 18-29 years), women in all sex, 371 (age 1, -17 years old), among which male patients were 225, 146 cases of female patients. All patients were analyzed by G banding karyotype.
The technology used in this experiment is human peripheral blood lymphocyte culture and chromosome preparation technology. Chromosome banding technique uses G banding.
The chromosomal G banding karyotype analysis of 2604 cases of genetic counseling to the hospital found that there were 249 cases with abnormal karyotype and 9.6% (249/2604) with abnormal karyotype, including 1803 cases of bad pregnant women, 89 cases with abnormal karyotype, 4.9% (89/1803) and 341 cases of infertility. There were 52 cases with abnormal karyotype, abnormal karyotype detection rate of 15.2% (52/341), 71 cases of azoospermia, 25 cases with abnormal karyotype, 35.2% (25/71), 18 cases of primary amenorrhea, 4 cases with abnormal karyotype and 22.2% (4/18) for abnormal karyotype, 371 with abnormal development. 371 Cases with abnormal karyotype in 79 cases, abnormal karyotype detection rate was 21.3% (79/371). In all chromosomal abnormal karyotypes, 91 cases of abnormal chromosomes were abnormal, abnormal karyotype detection rate was 36.5% (91/249), 34 cases of sex chromosome abnormality, abnormal karyotype detection rate of 13.7% (34/249), and chromosome polymorphism karyotype in 124 cases, abnormality. The detection rate of karyotype was 49.8% (124/249).
Conclusion:
1 2 cases of abnormal karyotype of the first reported chromosome were found in the world. One case was related to spontaneous abortion. Another case might be related to respiratory diseases and hypothyroidism.
2 abnormal chromosomal karyotype detection rates in patients with abnormal reproductive and dysplasia were significantly higher than those in the general population, indicating that chromosomal abnormalities were closely related to reproductive and developmental abnormalities.
In 3 autosomal abnormal karyotypes, the proportion of chromosomal balanced translocation karyotype to autosomal abnormal karyotype is the largest, which is the main abnormal karyotype associated with abortion, embryo arrest and infertility.
In the 4 abnormal karyotype of chromosome, Klebsiella is still the most common chromosomal disease. It is the main abnormal karyotype associated with azoospermia and azoospermia.

【学位授予单位】：郑州大学
【学位级别】：硕士
【学位授予年份】：2013
【分类号】：R394

【参考文献】