一例罕见的47) XY, + 19八7, XY, -I- 21类先天愚型

血红蛋白G-Coushatta (HbG-Coushatta）是 一种慢速异常血红蛋白。它的Is链N端第22位 谷氨酸被丙氨酸替代，即尸，Glu-Alao首先由 Schneide：等在美国中西部印第安人中发现［[71。最 近我们在湖北省黄陕县的一个汉族家庭中发现 两名同胞姐妹为Hb G-Coushatta纯合子，并首 次应用DABITC/PITC双偶合顺序测定法鉴定 了此种异常血红蛋白的化学结构，现报道如下。     

一例罕见的47,XY,+19/47,XY,+21类先天愚型

自Lejeune(1959)首次发现先天愚型具第21号常染色体三体性以来,各国报道了很多与染色体畸变有关的精神发育不全的综合征。但有关F组染色体畸变所致精神发育不全的报道甚少。本文报告一例核型为47,XY,     

一例罕见的46,XY/92, XXYY嵌合体

二倍体广四倍体嵌合体是极为罕见的病例， 1981年11月9日我院收治一例疑有染色体异 常的多发畸形患儿，经外周血培养做染色体检 查，发现为46,XY/92, XXYY嵌合体。     

Father and son with karyotype 47,XY,?Yq-

Summary A 22-year-old man and his father, both with 47 chromosomes, an extra small metacentric chromosome and the presumptive karyotype of 47,XY, ?Yq-, are presented.Literature concerning cases with 47 chromosomes and a small metacentric chromosome is reviewed and discussed. It is concluded that it is unlikely that persons with 47 chromosomes and an extra small metacentric chromosome constitute a new cytogenetic disease the syndrome of the metacentric microchromosome, as suggested by Abbo and Zellweger (1970).Persons with 47 chromosomes and an extra small metacentric chromosome have most probably a great variety of chromosomal aberrations, some of autosomal and some of sex chromosomal origin.

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Zusammenfassung Es wird über einen 22jährigen Mann und seinen Vater berichtet. Beide hatten 47 Chromosomen: Ein zusätzliches metazentrisches kleines Chromosom und den angenommenen Karyotyp 47,XY, ?Yq-.In diesem Zusammenhang wird die Literatur über Fälle mit 47 Chromosomen und einem kleinen metazentrischen Extrachromosom diskutiert. Die Autoren gelangen zu der Schlußfolgerung, es sei unwahrscheinlich, daß eine neue cytogenetisch charakterisierte Krankheit, das Syndrom des metazentrischen Mikrochromosoms, wie Abbo u. Zellweger (1970) es annehmen, in der Tat existiert. Personen mit 47 Chromosomen und einem kleinen metazentrischen Extrachromosom haben sehr wahrscheinlich eine große Anzahl verschiedener Chromosomenaberrationen, einige autosomalen und andere geschlechtschromosomalen Ursprungs.

     

一例罕见的47) XY, + 19八7, XY, -I- 21类先天愚型1)

自L荀eune (1959)",首次发现先夭愚型具 第21号常染色体三体性以来,各国报道了很 多与染色体畸变有关的精神发育不全的综合 征。但有关F组染色体畸变所致精神发育不全 的报道甚少。本文报告一例核型为47, XY, +19/47, XY,＋21的类先天愚型。据我们所 能查阅的国内外文献,未见同类报告。     

一例罕见的46,XY/92,XXYY成年病例

人类的四倍体个体极为罕见,至今仅见于少数流产儿或出生不久即夭折的新生儿,罕有活至成年者。本文报道已届成年的四倍体嵌合型病例,经多次外周血短期培养和骨髓直接制备染色体,均为四倍体与二倍体嵌合体(46,XY/92,XXYY)。患者发育迟缓、智力低下,并有多种先天性异常,同时伴有G6PD缺乏。家系调查表明父母染色体为正常核型,但其母为G6PD缺乏携带者。     

46,XY女性患者SRY基因启动子区域的突变分析

大约15%的46,XY女性患者中发现SRY基因编码区突变,其他患者可能是SRY基因的调节区, 包括启动子区域发生了突变,或者其他相关基因发生突变所致。本文采用限制性酶切、PCR-SSCP及银染检测技术,对7例患者SRY基因的启动子区域进行了突变筛查, 结果未发现异常,提示这些患者的病因与SRY基因启动子区域本身无关,结合对患者SRY基因HMG基序DNA的突变分析结果,表明除SRY基因异常外还存在其他导致46,XY女性性反转综合征的遗传机制。 Abstract:Using restriction endonuelease digestion and PCR-SSCP with silver staining,we analyzed the promotor region of SRY gene in seven 46,XY femalcs.The results showed no abnormality,thus ruling out the mutations in the promotor region of the SRY gene as a possible cause of sex reversal in these XY females.In view with the absence of the mutations in the HMG regions of the SRY genes of several patients,it is suggested that SRY gene is not the only gene responsible for testicular development but is one of many hierarchical genes involved in a genetic cascade for sexual differentiation.     

一个46,XY"女性"不育症家系的遗传学分析

运用常规的染色体G带分析和基因分析技术对-46,XY男性女性化家系进行遗传学分析,发现：先证者及其妹妹的染色体核型为46,XY,其母亲和父亲的核型正常;对睾丸决定基因（SRY）和雄激素受体基因（AR）进行突变检测,在SRY基因的整个编码区中没有发现突变,而AR基因的第7个外显子的第840个密码子由CGT（编码精氨酸）变为CAT（编码组氨酸）,这一改变可能是导致核型为46,XY女性化而发生不育。     

45,X/46,XY qh? Karyotype and Aspermia. A case report

A 41-years old male with short stature, abnormal male sex differentiation, aspermia and schizoid character disorder is described. The patient was studied from clinical, endocrinological and genetic perspectives. Cytogenetical analysis revealed a chromosomic mosaicism formed by two normal lines 45X and 46,XY qh^?. Molecular studies on AZF region evidenced that it was conserved. The correlation of the symptoms with the cytogenetic finding is discussed.     

Roles of electrostatic interaction and dispersion in CH···CH,CH···π, and π···π ethylene dimers

The structural, mechanical, electronic, and optical properties of orthorhombic Bi₂S₃ and Bi₂Se₃ compounds have been investigated by means of first principles calculations. The calculated lattice parameters and internal coordinates are in very good agreement with the experimental findings. The elastic constants are obtained, then the secondary results such as bulk modulus, shear modulus, Young’s modulus, Poisson’s ratio, anisotropy factor, and Debye temperature of polycrystalline aggregates are derived, and the relevant mechanical properties are also discussed. Furthermore, the band structures and optical properties such as real and imaginary parts of dielectric functions, energy-loss function, the effective number of valance electrons, and the effective optical dielectric constant have been computed. We also calculated some nonlinearities for Bi₂S₃ and Bi₂Se₃ (tensors of elasto-optical coefficients) under pressure.

一例罕见的469 XY/92, XXYY成年病例

人类的四倍体个体极为罕见，至今仅见子少数流产儿或出生不久即夭折的新生儿，罕有活至成年 者。本文报道已届成年的四倍体嵌合型病例，经多次外周血短期培养和骨髓直接制备染色体，均为四倍 体与二倍体嵌合体。6, XY/92, XXYY),患者发育迟缓、智力低下，并有多种先天性异常，同时伴有 G6PD缺乏。家系调查表明父母染色体为正常核型，但其母为GOD缺乏携带者。     

一位46,XY,t(11;18)平衡易位携带者的联会复合体分析

运用表面铺展联会复合体(synaptonemal cotnplex,SC)的电镜技术对一位46,XY,t(11;18)平衡易位携带者性细胞进行SC观察,分析了30个精母细胞(从早粗线期→晚粗线期)中SC图象,这些精母细胞中均显示了1个性二价体、20个常染色体二价体(SC)和1个四价体。对其中的21个四价体配对行为进行分析,发现有20个四价体发生部分异源配对,其中4、14和2个四价体分别发生在早、中和晚粗线期,发生在早粗线期的异源配对是一种直接的异源配对,与以前报道的发生在晚粗线期经联会调整的异源配对不同。并对该患者发生生殖失败的机制进行了讨论。     

Theoretical investigations of the H···π and X (X = F,Cl, Br,I)···π complexes between hypohalous acids and benzene

The H···π and X (X = F, Cl, Br, I)···π interactions between hypohalous acids and benzene are investigated at the MP2/6-311++G(2d,2p) level. Four hydrogen-bonded and three halogen-bonded complexes were obtained. Ab initio calculations indicate that the X···π interaction between HOX and C₆H₆ is mainly electrostatically driven, and there is nearly an equal contribution from both electrostatic and dispersive energies in the case of XOH–C₆H₆ complexes. Natural bond orbital (NBO) analysis reveals that there exists charge transfer from benzene to hypohalous acids. Atom in molecules (AIM) analysis locates bond critical points (BCP) linking the hydrogen or halogen atom and carbon atom in benzene.     

Multiple Mißbildungen bei einem Mädchen mit dem Karyotypus 46, XY, 17q+

Summary In a girl with multiple malformations (Pierre Robin syndrome, abortive form of dysostosis cleidocranialis, and other deformities) a spontaneous duplication-deficiency as well as the XY sex chromosomes were found. Detailed cytogenetic analysis revealed a deficiency of the distal half of the long arm of a chromosome 17. The duplication involves a region of the size of the long arm of chromosome 18. The combination of malformations as well as the autoradiographic pattern does not exclude the possibility that indeed a region of the long arm of chromosome 18 is involved.

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Wesentliche Teile der vorliegenden Arbeit werden von Herrn Dieter Bombel als Dissertation der Medizinischen Fakultät der Universität Freiburg i. Br. vorgelegt.

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Mit Unterstützung durch die Deutsche Forschungsgemeinschaft.     

46,XY女性性反转患者SRY基因的两个新突变类型

Y染色体上的性别决定区域——SRY基因作为睾丸决定因子,可以调控男性性别发育过程。SRY基因是一种转录因子,属于带有高迁移率族蛋白家族,该家族成员包含能与DNA结合的HMG盒基序。已知SRY基因的缺失和点突变是造成XY女性性反转的病因之一。通过筛查10位中国46,XY女性性反转病人SRY基因的开放阅读框区域,探寻新的突变类型。用标准方法从外周血中抽提gDNA,通过聚合酶链式反应扩增SRY基因中部的609bp的DNA片段。扩增后的PCR片段被克隆到pUCm-T载体中,在ABI377-3自动测序仪上完成测序。运用限制性内切酶酶切分析的方法验证DNA测序的结果。结果表明,在两个患者的SRY基因中分别发现了新的核苷酸点突变,并都导致氨基酸替代。一个突变发生在SRY基因的5’端HMG盒外的核苷酸第113位腺嘌呤(A)被鸟嘌呤(G)取代,并导致谷氨酸被甘氨酸替换;另一个突变是第387位核苷酸发生T被A替换,该突变引起第129位的酪氨酸变成终止密码,她父亲的SRY序列被证明是正常的野生型。通过查询文献和人类基因突变数据库(HGMD),这两个突变都是以前未见报道过的新型SRY基因突变,并使因核苷酸替换引起SRY基因突变总数增加到45。     

一例45,X/46,XY嵌合型Turner综合征的临床和细胞遗传学研究

本文报道了一例45,X/46,XY嵌合型Turner综合征的病例,并进行了外周血淋巴细胞、两侧性腺及皮肤成纤维细胞培养及其核型分析。对核型及表型的关系,肿瘤的发生率以及45,X/46,XY嵌合体息者的性腺发育和分化,进行了讨论。     

《遗传学》:除了XY,决定性别还有另一种关键基因

<正>男人和女人有许多明显不同的地方,以往认为所有这些不同背后的本质原因隐藏在我们的第23对染色体——X和Y染色体中,过去的绝大部分研究都集中在这两个基因是怎样编码蛋白质从而决定性别的。最近,美国冷泉港实验室(CSHL)科学家发现,还有一种非常小的亚基因单位能编码一种短RNA分子(mi RNAs),在区别两种性别方面也发挥着关键作用。相关论文发表在最近的《遗传学》杂志上。     

46,XY gonadal dysgenesis: Isoncogenesis related to H-Y phenotype or breast development?

Summary Among women with 46,XY gonadal dysgenesis, there is a high incidence of gonadal tumors. Because of evidence of a connection between occurrence of those tumors, H-Y phenotype, and breast development, we surveyed 55 cases of 46,X gonadal dysgenesis and 12 related cases involving chromosomal and/or skeletal abnormalities. Our survey, including three new cases presented here, indicates that H-Y phenotype but not breast development may be related to the development of the gonadoblastoma-dysgerminoma. Thus among women with 46,XY gonadal dysgenesis, there are H-Y^– and H-Y⁺ classes, but gonadal tumors are found almost exclusively in the H-Y⁺ class. Yet one of our patients may represent an exception to the association of H-Y⁺ phenotype and gonadal tumors in this syndrome.