本文選題：生殖異常 + 發(fā)育異常��； 參考：《鄭州大學(xué)》2013年碩士論文

【摘要】：研究背景和目的： 生殖異常是患者進(jìn)行遺傳咨詢(xún)時(shí)最多見(jiàn)的指征,包括胚胎停止發(fā)育、妊娠胎兒丟失、死胎、死產(chǎn)、畸形兒或智力低下兒以及不孕不育等。發(fā)育異常是指出生缺陷和青春期第二性征發(fā)育不良。出生缺陷是指孩子出生時(shí)就存在的胎兒形態(tài)結(jié)構(gòu)、生理功能異�；虼x缺陷所致的異常,形態(tài)結(jié)構(gòu)異常表現(xiàn)為先天畸形,如無(wú)腦兒、脊柱裂、兔唇、四肢異常等,生理功能和代謝缺陷常導(dǎo)致先天性智力低下、聾、啞等異常。第二性征異常者,見(jiàn)于女性,如身材矮小、原發(fā)閉經(jīng)、性腺發(fā)育不良等,見(jiàn)于男性,如陰莖伴尿道下裂,小睪丸等。引起夫妻雙方生殖異常、發(fā)育異常的病因復(fù)雜多樣,其中一個(gè)最重要的原因即染色體異常。 染色體是基因的載體,染色體異常很容易造成基因的異常,進(jìn)而影響機(jī)體正常功能的發(fā)揮,形成一些遺傳性疾病。染色體異常即染色體核型異常,主要包括常染色體異常、性染色體異常和染色體多態(tài)性,這三類(lèi)染色體核型異常是染色體病形成的根本原因。研究對(duì)象： 本研究選取2010年1月-2011年12月在河南省中醫(yī)學(xué)院第一附屬醫(yī)院進(jìn)行遺傳咨詢(xún)及細(xì)胞遺傳學(xué)檢查的生殖異常及發(fā)育異�；颊吖�2604例。包括不良孕產(chǎn)史患者1803例,其中男性患者889例(年齡為21-51歲),女性患者914例(年齡為20-43歲)；不孕不育患者341例,其中男性患者176例(年齡為19-59歲),女性患者165例(年齡為19-41歲)；男性無(wú)精弱精癥患者71例(年齡為18-45歲)；原發(fā)性閉經(jīng)患者18例(年齡為18-29歲),社會(huì)性別均為女性；發(fā)育異�；颊�371例(年齡為1天-17歲),其中男性患者225例,女性患者146例。所有收集的患者均做G顯帶染色體核型分析。研究方法： 本實(shí)驗(yàn)采用的技術(shù)為人類(lèi)外周血淋巴細(xì)胞培養(yǎng)和染色體制備技術(shù),染色體顯帶技術(shù)采用的是G顯帶。結(jié)果： 對(duì)前來(lái)醫(yī)院進(jìn)行遺傳咨詢(xún)的2604例患者進(jìn)行染色體G顯帶核型分析發(fā)現(xiàn),具有染色體異常核型患者共249例,異常核型檢出率為9.6%(249/2604)。其中不良孕產(chǎn)患者1803例,具有異常核型患者89例,異常核型檢出率為4.9%(89/1803)；不孕不育患者341例,具有異常核型患者52例,異常核型檢出率為15.2%(52/341)；無(wú)精弱精癥患者71例,具有染色體異常核型患者25例,異常核型檢出率為35.2%(25/71)；原發(fā)性閉經(jīng)患者18例,具有染色體異常核型患者4例,異常核型檢出率為22.2%(4/18)；發(fā)育異�；颊�371例,具有染色體異常核型患者79例,異常核型檢出率為21.3%(79/371)。在所有檢出的染色體異常核型中,常染色體異常共91例,異常核型檢出率為36.5%(91/249)；性染色體異常共34例,異常核型檢出率為13.7%(34/249)；染色體多態(tài)性核型共124例,異常核型檢出率為49.8%(124/249)。 結(jié)論： 1發(fā)現(xiàn)2例世界首報(bào)染色體異常核型,一例與自然流產(chǎn)相關(guān),另一例可能與呼吸道疾病以及甲狀腺功能低下有關(guān)。 2生殖異常和發(fā)育異�；颊咧腥旧w異常核型檢出率均明顯高于普通人群中的發(fā)生率,說(shuō)明染色體核型異常與生殖異常和發(fā)育異常關(guān)系密切。 3常染色體異常核型中,染色體平衡易位核型占常染色體異常核型比例最大,是與流產(chǎn)、胚胎停育以及不孕不育相關(guān)的主要異常核型。 4性染色體異常核型中,克氏癥仍是最常見(jiàn)的染色體疾病,是與男性無(wú)精／弱精子癥相關(guān)的主要異常核型。
[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.

【學(xué)位授予單位】：鄭州大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2013
【分類(lèi)號(hào)】：R394

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