母子同患结节性硬化症二例报告

结节性硬化症(tuberous sclerosis,TS)是一种先天性神经皮肤综合征,为常染色体显性遗传病.该病发病率较低,且母子同患的情况较少见,现将本院收治的母子同患该病的病例资料报道如下.     

白细胞形态中的Pelger—Hueet异常

1928年Pelger描述了结核病患者血涂片中中性粒细胞核的一种畸形现象，表现为核呈“夹鼻眼镜”形，哑铃形（2叶）或花生形等特征，其认为出现这类细胞表明患者预后差。1931年Hueet证明了这是一种常染色体显性遗传性疾病。目前认为Pelger-Hueet异常具以下特征：①中性粒细胞核分叶减少（呈圆形、卵圆形或2叶）（见图1）；     

APC基因突变与家族性腺瘤性息肉病

家族性腺瘤性息肉病(FAP)是一种常染色体显性遗传病,1987年发现它的致病基因是APC基因。 一、APC基因及突变 APC基因是一种肿瘤抑制基因,该基因既有胚系(germline)突变,也有体细     

重组2型腺相关病毒-转化生长因子β3对实验性肝纤维化大鼠肝脏组织病理学和Ⅰ型胶原表达的影响

Objective To investgate the effects of TGF β 3 on rat hepatic fibrosis. Methods The TGF β 3 cDNA was cloned into rAAV2 vector. Rats were randomly divided into four groups: normal control group, model group, negative control group and TGF β 3 group. Hepatic fibrosis was induced by hypodermic injection of 40% CCI4. Recombinant AAV2-TGF β 3 viral particles were injected via the vena caudalis one week before CCh treatment. Rats were executed 8 weeks after CCI4 treatment, global histological change was observed after HE staining, the distribution of the collagen fibers was observed after masson staining, his-tochemistry was done to observe the expression of collagen Ⅰ; The positive area rate of the collagen fibers and the average optical rate of collagen Ⅰ were quantified. Results HE staining indicated that collagen fibers were reduced in the TGF β 3 group. Masson staining shown that the collagen fibers were distributed around the blood vessel, in the portal area and disse space. Compared to the model group (13.2%±2.2%) and negative control group (12.3%±1.5%), the collagen fibers in liver tissues of TGF β3 group (7.7% ± 1.5%) were significantly decreased (q = 9.456, P < 0.01; q = 8.217, P < 0.01). Histochemistry indicated that the collagen fibers of liver tissues of TGF 15 3 group (0.185±0.033) were significantly higher than those in the model group (0.252±0.042) and the negative control group (0.230±0.029), (q = 6.228, P < 0.01; q = 4.346, P < 0.01). Conclusion TGF β 3 alleviates the damage to hepatic cell and the level offibrosis in CCI4 treated rats and inhibits the expression of collagen Ⅰ.     

正常国人染色体畸变率的探讨

本文总结了全国各地正常人染色体畸变资料93份,共检查正常人3754例,分析细胞496146个。染色体畸变各项指标的自然发生率(每百细胞发生数)分别为无着丝粒断片0.179,微小体0.018,“双十环”0.015,倒位和易位0.004,体型畸变细胞0.166,体型畸变0.213,体型断裂数0.225,单体断裂0.411,单体互换0.010,裂隙0.827,单体型畸变细胞0.693,总畸变0.743。给出了各指标的95％可信限。对有关问题进行了讨论。     

端区与衰老

端区由富含G、C的简单重复序列组成,端区长度在衰老过程中逐渐缩短,而端聚酶可延长端区。端区与衰老密切相关。     

51例不育男性的染色体分析

５１例不育男性的染色体分析生物教研室金龙金［关健词］不育男性，染色体异常染色体异常是引起男性不育的重要原因之一。其中又以性染色体数目畸变为最常见。作者１９８９年至１９９２年，对５１例不育男性进行了染色体分析，现将结果报告如下。１对象和方法１１对象：５...