發(fā)布時間：2018-03-12 11:14

  本文選題：性發(fā)育異常　切入點：核型　出處：《中南大學(xué)》2012年碩士論文　論文類型：學(xué)位論文

【摘要】：背景：性發(fā)育異常(Disorders of sex development, DSD),又稱為性分化異常(Disorders of sex differentiation),是指先天性的遺傳性別、性腺性別、表型性別三者不典型,出現(xiàn)內(nèi)在性狀或外在性狀的異常。該病具有表現(xiàn)度的顯著差異性及高度遺傳異質(zhì)性,是一系列嚴重危害人類身心健康的難以歸類、難以診斷的復(fù)雜性遺傳病。而由性染色體數(shù)目異常和結(jié)構(gòu)畸變所導(dǎo)致的性發(fā)育異常是其中最常見原因,該病簡稱性染色體DSD,包括45,X Turner綜合征(嵌合體,等臂X,環(huán)狀X等)、47,XXY Klinefelter綜合征(48,XXXY,嵌合體等)、45,X/46,XY(混合性腺發(fā)育不全,卵睪DSD)和46,XX/46,XY(異源嵌合體,卵睪DSD)。由于性染色體DSD核型的多樣性,出現(xiàn)了不同患者表型的差異性,雖大部分依靠傳統(tǒng)的細胞遺傳學(xué)技術(shù)能夠診斷,但單一技術(shù)應(yīng)用在性染色體DSD患者的診斷存在一定的局限性。 目的：探討多種遺傳學(xué)技術(shù)在性染色體DSD患者診斷中的應(yīng)用價值,分析性染色體DSD發(fā)病的遺傳學(xué)機制,為該類患者遺傳咨詢和臨床治療提供依據(jù)。 方法：聯(lián)合應(yīng)用外周血高分辨G顯帶和C顯帶核型分析、皮膚成纖維細胞染色體核型分析、SRY基因檢測、AZF微缺失檢測、中期染色體熒光原位雜交等遺傳學(xué)技術(shù)對22例性發(fā)育異�；颊哌M行診斷。 結(jié)果：22例性發(fā)育異�；颊咧�,21例明確診斷為性染色體DSD,其中2例通過皮膚成纖維細胞染色體明確診斷；2例通過FISH技術(shù)準確鑒定了微小額外標記染色體的來源；1例混合性腺發(fā)育不全患者AZFb區(qū)和AZFc區(qū)缺失。同時排除了1例被誤診的非性染色體DSD。 結(jié)論：細胞遺傳學(xué)、分子遺傳學(xué)、分子細胞遺傳學(xué)技術(shù)聯(lián)合應(yīng)用可提高性染色體DSD診斷的精準性,明確的診斷可為該類患者遺傳咨詢和臨床治療提供決策依據(jù)。
[Abstract]:Background: dysplasia (Disorders of sex development, DSD), also known as abnormal sexual differentiation (Disorders of sex differentiation), refers to the genetic sex, congenital gonadal sex, sex phenotype three atypical abnormal intrinsic or extrinsic character traits. The disease has significant difference degree and a high degree of genetic heterogeneity, is a series of serious harm to human health is difficult to categorize, the complexity of genetic disease is difficult to diagnose. The abnormal sex chromosome number and structure distortion caused by the abnormal sexual development is one of the most common cause of the disease, referred to as sex chromosome DSD, including X 45, Turner syndrome (chimera, etc. arm X, circular X, 47, XXY) and Klinefelter syndrome (48, XXXY, 45, mosaicism), X/46, XY (mixed gonadal dysgenesis, Ovotesticular DSD) and 46 (XY, XX/46, chimera, Ovotesticular DSD). Due to the diversity of chromosome karyotype of DSD There are different phenotypes in different patients. Although most of them can be diagnosed by traditional cytogenetic technology, there are some limitations in the diagnosis of sex chromosome DSD by single technology.
Objective: To explore the application value of multiple genetic techniques in the diagnosis of sex chromosome DSD patients, analyze the genetic mechanism of DSD, and provide evidence for genetic counseling and clinical treatment of these patients.
Methods: combined with peripheral blood high resolution G banding and C banding karyotype analysis, skin fibroblast chromosome karyotype analysis, SRY gene detection, AZF microdeletion detection, metaphase chromosome fluorescence in situ hybridization and other genetic techniques were used to diagnose 22 cases of sexual dysplasia.
Results: 22 cases of patients with sexual abnormality, 21 cases were diagnosed as sex chromosome DSD, including 2 cases by Karytype analysis of skin fibroblasts; 2 cases by FISH accurately identified the source of small supernumerary marker chromosome; 1 cases of mixed gonadal dysgenesis patients in AZFb and AZFc regions and eliminate missing. Non sex chromosome DSD. 1 cases misdiagnosed
Conclusion: the combination of cytogenetics, molecular genetics and molecular cytogenetics can improve the accuracy of DSD diagnosis of sex chromosomes, and the diagnosis can provide a basis for genetic counseling and clinical treatment of such patients.

【學(xué)位授予單位】：中南大學(xué)
【學(xué)位級別】：碩士
【學(xué)位授予年份】：2012
【分類號】：R394

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相關(guān)期刊論文 前1條

1 傅俊江,夏家輝,龍志高,楊毅,潘乾,廖曉東,夏希,陳勝湘;一例智力低下患者7q~+標記染色體的來源鑒定[J];實驗生物學(xué)報;1996年02期

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本文編號：1601309