脑星形细胞瘤p16基因缺失及5'CpG岛甲基化检测

目的探讨p16基因异常与脑星形细胞瘤发生、发展的关系。方法利用PCR及PCR-based甲基化技术检测了56例不同级别的脑星形细胞瘤组织p16基因缺失及5'CpG岛甲基化状况。结果18例高病理级别的脑星形细胞瘤发生了p16基因缺失,而低病理级别的脑星形细胞瘤无一例发生缺失（P<0.05）;6例脑星形细胞瘤发生了p16基因5'CpG岛甲基化。结论p16基因失活可能参与脑星形细胞瘤的病理发生、恶性进展。p16基因纯合缺失是p16基因失活的主要机制。     

Cardiac function in adolescents and young adults with 22q11.2 deletion syndrome without congenital heart disease

BackgroundDiagnosis and treatment of 22q11.2 deletion syndrome (22q11.2DS) have led to improved life expectancy and achievement of adulthood. Limited data on long-term outcomes reported an increased risk of premature death for cardiovascular causes, even without congenital heart disease (CHD). The aim of this study was to assess the cardiac function in adolescents and young adults with 22q11.2DS without CHDs.MethodsA total of 32 patients (20M, 12F; mean age 26.00 ± 8.08 years) and a healthy control group underwent transthoracic echocardiography, including Tissue Doppler Imaging (TDI) and 2-dimensional Speckle Tracking Echocardiography (2D-STE).ResultsCompared to controls, 22q11.2DS patients showed a significant increase of the left ventricle (LV) diastolic and systolic diameters (p = 0.029 and p = 0.035 respectively), interventricular septum thickness (p = 0.005), LV mass index (p < 0.001) and aortic root size (p < 0.001). 2D-STE analysis revealed a significant reduction of LV global longitudinal strain (p < 0.001) in 22q11.2DS than controls. Moreover, several LV diastolic parameters were significantly different between groups.ConclusionsOur results suggest that an echocardiographic follow-up in 22q11.2DS patients without CHDs can help to identify subclinical impairment of the LV and evaluate a potential progression of aortic root dilation over time, improving outcomes, reducing long-term complications and allowing for a better prognosis.     

Interstitial deletion of the long arm of chromosome 6 [del(6)(q16q22)]: case report and review of the literature

Partial monosomy of 6q resulting from an interstitial deletion of bands q16----q22 was found in a 12-year-old boy manifesting mental retardation, seizure disorder, and dysmorphic features. The correlation of phenotypic expression and specific long arm deletions of chromosome No. 6 is discussed.     

A new interstitial deletion of chromosome No. 4 del(4) (q22::q25)

A female child is described with multiple anomalies including epicanthus, frontal bossing, short sternum, polydactyly, cleft of the larynx, renal cysts, and unusual dermatoglyphics. She died aged 3 months and was found to have a unique de novo deletion of chromosome No. 4 (q22-q25). This case is compared with other long arm deletions of 4q and reference made to assignment of genetic markers to chromosome No. 4.     

No justification of routine screening for 22q11 deletions in patients with overt cleft palate

The velo-cardio-facial syndrome (VCFS), caused by a submicroscopic deletion of chromosome 22q11, is the most common syndrome that has palatal anomalies as a major feature. A possible strategy for early detection of VCFS is routine screening for 22q11 deletions in all infants with cleft palate (CP). The purpose of this study was to evaluate whether this strategy is preferable to testing on clinical suspicion. At the Nijmegen Cleft Palate Craniofacial Center, 58 new patients with overt CP were routinely tested, using fluorescence in situ hybridization (FISH), for a 22q11 deletion. One deletion was identified in a newborn girl with an overt CP who was clinically not suspected of having VCFS. Based on this study (n = 45) and the literature (n = 54), the prevalence of 22q11 deletions among children with CP, but without any other symptoms of VCFS, is estimated to be one in 99. We take the view that this figure is rather low and that early discovery will rarely have significant clinical or genetic consequences. Because CP patients remain under medical attention, almost all of the infants with isolated CP and VCFS will be recognized as having the syndrome at a later age when additional features have developed. Therefore, we conclude that routine FISH testing for 22q11 deletions in infants with overt CP is not indicated, provided clinical follow-up is guaranteed.     

An isolated case of Duchenne muscular dystrophy (DMD) in a female with a deletion of DMD cDNA

An isolated case of Duchenne muscular dystrophy (DMD) in a female who has a deletion of the DMD locus is described. This patient was a 26-year-old woman born to unrelated, healthy parents. She was initially examined at age 6 because of a waddling gait. At age 15, pseudohypertrophy of calves and pes equinus were observed along with proximal muscular weakness and wasting. Her serum creatine kinase level was high and histological evidence of muscular dystrophy was apparent on muscle biopsy. The patient was ambulant at age 15 and progression of motor disability has been slow. Chromosomal studies revealed a normal karyotype, and mental retardation is moderate. DNA analysis at age 26 revealed that she has a deletion of DMD cDNA 8 mapped within Xp21 and is heterozygous for the deletion. Since diagnosis of DMD is now dependent on the evidence of mutation or deletion at Xp21, this patient is thought to have a form of DMD. Expression of the DMD gene in the heterozygous state might be due to random but unequal lyonization.     

钙调蛋白基因缺陷HIS3酵母菌株的构建和鉴定

目的：构建白念珠菌钙调蛋白基因（CMD1）缺陷HS3酵母菌体,为进一步探讨钙调蛋白基因突变对真菌生长周期及致病性的影响奠定基础。方法：首先将含cmd1::TRP1置换序列的质粒I转化二倍体酵母菌株YPH501(his3trplural）,经Soutthern印迹法筛选出含TRP1序列的菌株。其次,将含CMD1序列的质粒Ⅱ转化以上TRP1阳性菌株,进行减数分裂后选择得到TRP1阳性酵母菌株单倍体。最后,将含trp1:HIS3置换序列质粒Ⅲ转化上述TRP1阳性单倍体菌株,用不含His培养基培养得到钙调蛋白基因缺陷HIS3酵母菌株。结果：经Southern印迹法证实cmd1：TRP1基因置换克隆;减数分裂后选择得到了TRP1阳性酵母菌株单倍体;质粒Ⅲ转化单倍体后经不含His培养基培养得到CMD1缺陷HIS3菌株,接种于不含Trp倍养基上未见有菌落生长,说明质粒Ⅲ转化单倍体后已将his3TRP1转换成HIS3trp1。结论：成功构建了钙调蛋白基因缺陷HIS3酵母菌株,基因型为cmd1trp1HIS3。     

新疆哈萨克族食管癌p16抑癌基因缺失及其表达的研究

目的：探讨抑癌基因在哈萨克族（哈族）食管癌发生、发展中的作用,应用分子生物学技术,阐明哈族食管癌高发的机理。方法;应用ＰＣＲ瑜民泳法和ＬＳＡＢ免疫组织化学分析法对新疆地区原发性食管癌及其正常组织中Ｐ１６基因第３外显子纯合缺及及基因表达进行检测。结果：４１对标本中癌组织及其正常组均未发现纯合缺失,２８例标本中１２例有Ｐ１６基因表达,占４２．９％（１２／２８）,其中哈族为５３．８％（７／１３）,汉族为     

HIV-1感染者外周血单个核细胞缺损病毒基因的研究

目的:研究HIV-1感染者缺损HIV-1 DNA的特性.方法:用长片段PCR法(LD-PCR)研究分析HIV-1感染者外周血单个核细胞(peripheral blood mononuclear, PBMCs)和体外培养感染淋巴细胞中HIV-1基因特征,使用位于HIV-1 DNA链两端的LTR(U5)、LTR(R)为引物,插入有全长HIV-1基因片段的大肠杆菌质粒PNL4-3等为标准对照,并对部分标本克隆测序.结果:经扩增9.1 kb是LD-PCR的主要产物,但在10例HIV-1感染者中有9例PBMCs检测出大小不一、范围较广的缺失HIV-1基因片段,经用基因探针杂交,发现近HIV-1基因中心部位缺失频率增加,缺失结合点常存在3～4个核苷酸短片段直接重复,体外培养中HIV-1基因缺损量减少,完整和缺失基因的存在与培养中病毒分离的时间密切相关.结论:HIV-1感染者PBMCs中存在大量HIV-1基因重组和缺损片段.     

GSTM1基因缺失多态与胃癌发病相关性研究

目的：探讨Ｍｕ类谷胱甘肽转移酶基因（ＧＳＴＭ１基因）缺失多态与胃癌发病的相关性。方法：采用聚合酶链反应（ＰＣＲ）方法,对９９例经手术及活检病理证实的胃癌患者进行ＧＳＴＭ１基因检测,结合国人ＧＳＴＭ１基因缺失统计学分布的标准对照进行病例对照研究。结果：胃癌组ＧＳＴＭ１ 失率为６３．６％,明显高于对照组缺失率５１．１％（Ｐ〈０．０５）。按吸烟分层分析表明,胃癌组大量吸烟者的ＧＳＴＭ１基因缺失率增高趋势