X染色体部分单体的母亲及相同核型的女儿

先证者,女,３３岁,１９９３年１１月１４日因外伤难免流产后３年不孕就诊。先证者２１岁结婚,婚后２年妊娠,无先兆流产,足月顺产一女婴,分娩过程正常,婴儿无窒息。２８岁第二次妊娠,约４０天不慎从山上摔下流产,行清宫术。近３年出现继发闭经,用乙芪酚、黄体酮...     

等臂Xq伴有5,6号平衡易位一例

先证者,女,19岁,蒙族,因原发闭经、身材矮小来院就诊。患者足月顺产,第11胎,生后一般情况尚可。体查：身高132cm,高拱窄愕,发际低,颈部至后背有20*30cm²,咖啡色素沉着,盾状胸,乳房未发育,乳距宽,无阴毛、腋毛,外阴呈幼女型,子宫发育不良,卵巢条索状。染色体核型为46, X, i(X_q),t(5;6)(q13;p21.3),经湖南医学细胞遗传学国家培训中心鉴定为世界首报。家族中无类似患者,先证者父母经检查,染色体正常,患者同胞共13人,有一名于婴儿期患病死亡,余6男、6女,均健康,其中一男结婚多年未育,一男智力迟钝,染色体检查,核型正常,其他人未做染色体检查。     

等臂X_q伴有5、6号平衡易位一例

先证者,女,19岁,蒙族,因原发闭经、身材矮小来院就诊。患者足月顺产,第11胎,生后一般情况尚可。体查:身高132cm,高拱窄腭,发际低,颈部至后背有20×30cm~2咖啡色素沉着,盾状胸,乳房未发育,乳距宽,无阴毛、腋毛,外阴呈幼女型,子宫发育不良,卵巢条索状。染色体核型为46,X,i(X_q),t(5;6)(q13;p21.3),     

沟回唇一家系连续三代九例报告

沟回唇为一罕见的遗传性状,至今尚未见文献报道,现将我们遇到的1例及其家系随访情况,作一报告。 先证者 王××,女,41岁,病例号58489。因患高血压,服复方降压片过量入院。该患者足月顺产分娩,出生时上唇仅见数条浅表纹理,随年龄增加,纹理增加,尤以35岁以后纹理显著,形成凸凹皱褶似大     

一例急性间歇性血卟啉病病例报道及文献回顾

目的:对患有急性间歇性血卟啉病先证者及其两位直系亲属进行基因突变的分析。方法:采用PCR和一代测序技术分别对患者的HMBS基因的外显子及其旁翼区进行序列分析。结果:检测出先证者HMBS基因11号外显子的旁翼区发生杂合突变c.651+2AG,为剪切突变;从先证者母亲以及女儿的HMBS基因上检测出同样的突变位点。结论:根据先证者的家族史、临床表现及相关代谢检查结果诊断为血卟啉病;基因检测结果提示先证者为急性间歇性血卟啉病;先证者的母亲和女儿存在同样的突变位点,提示先证者母亲及其女儿均患有急性间歇性血卟啉病。     

荔枝瘿螨的天敌——亚热冲绥螨的生物学及其捕食效能

本文报道了荔枝瘿螨天敌──亚热冲绥螨的生物学、世代历期、捕食效能及其种群消长规律。在室温２８一３１℃,相对湿度７８一８０％的实验条件下,亚热冲绥螨的卵期１．８７±０．５６天;幼螨期１．２７±０．４４天;第一若螨期１．５３±０．４６天;第二若螨期１．５０±０．６３天;产卵前期１．９０±０．５５天;全代历期８．０７±１．３３天。其捕食效能模型为Ｎａ     

小儿结核性脑膜炎50例分析

结核性脑膜炎（结脑）是小儿肺外结核中最严重的常见病,也是小儿结核病死亡的主要原因之一。早期易误诊为其他疾病,因此,多数病例确诊时已为中、晚期,严重影响疗效及预后,病死率较高。我院１９９１～１９９６年收治５０例,现分析如下。１临床资料１．１一般情况５０...     

徒手旋转胎头术66例临床分析

我院１９９４～１９９７年对６６例持续性枕横位及枕后位采用经阴道徒手旋转术纠正胎头位置,结果成功率７４．２％,效果明显,现报道如下：１临床资料１．１一般资料６６例中持续性枕横位５４例,持续性枕后位１２例。初产妇５０例,经产妇１６例。１．２徒手旋转指征（...     

山地麻晰繁殖生态的研究

１９９７年３月至１９９８年８月,在徐州市近郊的牛头山对山地麻晰的繁殖生态进行了研究。３～７月为繁殖期,其中４～５月为交配产卵盛期。雌雄性比为１１．６。从交配到产卵为２６天,卵白色、革质、椭圆形。长径平均为１．３７（１．２３～１．５３）ｃｍ,短径平均为０．８６（０．７～１．０６）ｃｍ,卵重平均为０．６（０．４～０．８５）ｇ,每窝平均产卵４．１（３～５）枚。孵化期为５０天。初孵出的小麻晰尾端为蓝绿色,     

一个罗伯逊易位t(13;14)家系的核型分析

1980年10月,我们在湖南衡阳地区发现一个罗伯逊易位t(13;14)家系。此家系两代人中,5人具有t(13;14)易位染色体,这在国内还是比较罕见的。现报告如下。 家系调查与核型分析 先证者郑××,女,27岁,教师。自1971年结婚以来,共妊娠6胎,除第2胎于1975年     

A homozygous female hemophilia A

BACKGROUND:

Hemophilia A (HA), being an X-linked recessive disorder, females are rarely affected, although they can be carriers.

AIMS:

To study the mutation in F8 gene in an extended family with a homozygous female HA.

MATERIALS AND METHODS:

All the seven affected members (six males and one female) were initially screened by Conformation Sensitive Gel Electrophoresis (CSGE) and direct DNA sequencing.

RESULTS:

A homozygous missense mutation c.1315G>A (p.Gly420Ser) was identified in exon 9 of F8 gene in homozygous state in the affected female born of 1° consanguinous marriage and in all the affected male members of the family. Her factor VIII levels was found to be 5.5%, vWF:Ag 120%.

CONCLUSION:

In India, as consanguineous marriages are very common in certain communities (up to 30%), the likelihood of encountering female hemophilia is higher, although this is the first case of HA out of 1600 hemophilia families registered in our Comprehensive Haemophilia Care Center. Genetic diagnosis in such cases is not necessary as all the male children will be affected and daughters obligatory carriers.     

Aminopeptidase A is angiotensinase A

Summary Quantitative histochemical measurements of aminopeptidase A (APA; E.C.3.4.11.7) were done kinetically in the kidney glomeruli of rat and mouse with an instrumental setup consisting of a microdensitometer and a computer-supported morphometric system. The histochemical demonstration of APA was carried out using the simultaneous azo coupling technique (purest-grade Fast Blue B as coupling agent and -l-glutamic acid-4-methoxy-2-naphthylamide as substrate). The methodological studies show that APA activity is calcium-ion-dependent and increases linearly with the thickness of the tissue section (3–12 m) and that the time-course of APA activity as determined by linear regression is linear only for the first 1 to 2 min of the reaction. — Kinetic measurements indicate a 40% decrease in APA activities when -l-glutamic acid-4-methoxy-2-naphthylamide (-l-Glu-MNA) is replaced by -l-aspartic acid-4-methoxy-2-naphthylamide. When -l-Glu-MNA is replaced with l-alanine-4-methoxy-2-naphthylamide, which is a substrate of aminopeptidase M (APM) only very low reaction rates are measurable (about 1.4% of those with -l-Glu-MNA). 100 and 130 mM NaCl in the incubation medium increase APA activities by approximately 16%–17%. — To clarify the functional importance of APA in the kidney, their activities were measured under the influence of angiotensins. The glomerulus was selected as the measuring site, for besides APA it contains no APM or other peptidases that could degrade angiotensins (the glomerular dipeptidyl peptidase IV is not inhibited by angiotensin II). Using the Lineweaver-Burk plot, we determined a K _m of 0.16 mM for the APA in rat glomeruli and 0.14 mM in mouse glomeruli. The V _max in mouse glomeruli is 1.6 times higher than in rat glomeruli. Ang iotensin I, II and III competitively inhibit APA in the rat and mouse glomeruli. — With quantitative histochemical techniques it was possible to show that APA is equivalent to angiotensinase A (splitting off the N-terminal aspartic acid from angiotensin I and II).Supported by the Deutsche Forschungsgemeinschaft (SFB 105)     

A glucoside of urospermal A

The aerial parts of Urospermum picroides afforded, in addition to urospermal A a p-hydroxylphenyl acetate of a glucoside of urospermal A.     

Quadruplexes of human telomere DNA analogs designed to contain G:A:G:A,G:G:A:A,and A:A:A:A tetrads

Replacement of two to four guanines by adenines in the human telomere DNA repeat dG₃(TTAG₃)₃ did not hinder the formation of quadruplexes if the substitutions took place in the terminal tetrad bridged by the diagonal loop of the intramolecular antiparallel three‐tetrad scaffold, as proved by CD and PAGE in both Na⁺ and K⁺ solutions. Thermodynamic data showed that, in Na⁺ solution, the dG₃(TTAG₃)₃ quadruplex was destabilized, the least by the two G:A:G:A tetrads, the most by the G:G:A:A tetrad in which the adenosines replaced syn‐guanosines. In physiological K⁺ solution, the highest destabilization was caused by the 4A tetrad. In K⁺, only the unmodified dG₃(TTAG₃)₃ quadruplex rearranged into a K⁺‐dependent quadruplex form, none of the multiple adenine‐modified structures did so. This may imply biological consequences for nonrepaired A‐for‐G mutations. © 2010 Wiley Periodicals, Inc. Biopolymers 93: 880–886, 2010.