共查询到19条相似文献,搜索用时 96 毫秒
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脊肌萎缩症(SMA)是一组常见的常染色体隐性遗传病,居致死性常染色体隐性遗传病的第二位。近年来,在SMA的分子遗传学研究方面取得了重大进展,可能与运动神经元存活基因、神经元凋亡抑制蛋白基因和P44基因的突变有关。 相似文献
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一、解题思路 (一)判断遗传系谱类型: 遗传系谱类型共有五种:常染色体显性遗传,常染色体隐性遗传,伴x显性遗传,伴X隐性遗传,伴Y遗传。 相似文献
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樊宏亮 《重庆工商大学学报(自然科学版)》2010,27(4):341-343,354
在临床上,一个家系中如果同时存在两种单基因病,而控制这两种单基因病的致病基因位于不同的染色体,即非同源染色体上,其遗传方式符合自由组合定律制。根据基因在遗传时趋于稳态的情况,运用马尔可夫模型对非同源染色体体上的基因类型进行分析,并为控制常染色体遗传病提供预测。 相似文献
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犬契——东综合征(Chediak-Higashi syndrome CHS)是犬常见染色体隐性遗传病,其特点是因色素的缺乏引起皮肤及眼的白化,白细胞内有异常巨大的颗粒,对疾病的易感性增加。本病为罕见的遗传病,迄今为止尚无有效治疗方法。在临床上应淘汰病犬及致病基因携带者,如果有必要可采用保守疗法。 相似文献
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青少年型视网膜劈裂为一种性连锁隐性遗传疾病,病变基因位于X染色体短臂的Xp22区,极少数为常染色体隐性遗传,临床所见绝大多数为男性。现将我院门诊所见一例报告如下。 相似文献
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陈文福 《河南教育学院学报(自然科学版)》2001,10(2):43-45
本文首先分析了一、二、三级亲属间的亲缘关系,然后从亲缘系数的角度,用数学分析的方法,说明了近亲结婚会导致后代先天性遗传病患病率的可能性大大提高,从而提高了人们对近亲结婚危害性的认识。 相似文献
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遗传性牙本质发育不全Ⅱ型(Dentinogenesis impefecta,DGI-Ⅱ)是一种常染色体显性遗传病,又称遗传性乳光牙本质,疾病基因定位于人类染色体4q21.笔者对DG I-Ⅱ临床表现、基因定位和牙本质涎磷蛋白基因(dentin sialophosphoprotein,DSPP)结构、蛋白质功能及突变与疾病发生的关系等方面的研究情况进行了综述. 相似文献
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作者对一例已达到配种年龄,无性周期表现的黑白花母牛,经临床、生殖系统、解剖学、组织学和染色体核型观察,初步诊断为内生殖器发育不全。认为可能与常染色体隐性遺传、性腺激素诱导或基因突变有关。 相似文献
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对我国隐性失业率的测定与实证分析 总被引:4,自引:0,他引:4
李红松 《武汉科技大学学报(自然科学版)》2001,24(1):104-106
我国劳动力的失业包括显性失业和隐性失业,目前的失业率主要 相似文献
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Altered DNA ligase I activity in Bloom's syndrome cells 总被引:5,自引:0,他引:5
Cells from patients with Bloom's syndrome, a rare disease associated with increased cancer frequency, exhibit cytological abnormalities. These include increased numbers of homologous chromatid interchange figures and sister-chromatid exchanges, together with abnormally slow replicon-fork progression and retarded rate of DNA-chain maturation, and suggest that the primary defect in this recessive disorder affects S-phase DNA replication. DNA ligases and DNA polymerases have long been prime candidates for abnormality in Bloom's syndrome, but various studies of DNA polymerases in Bloom's syndrome cells have disclosed no abnormalities. Evidence is presented here, as in the accompanying paper from a different laboratory, for the existence in Bloom's syndrome of an abnormality of the DNA ligase involved in semi-conservative DNA replication. 相似文献
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文章通过对一例甲状旁腺功能不全症女性患者家系谱的调查分析,说明了X性染色体连锁遗传的隐性遗传病甲状旁腺功能不全症症状在女性中的表现特点和遗传规律。 相似文献
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<正> 1983年,我们作家系调查时,遇到一家三例,临床检查:有相似于维生素D依赖性佝偻病(VDDR)的症状,但是,患者的血钙正常,血磷显著偏高,生长到7~9岁才开始出现类似于VDDR的症状,这种情况,迄今未见报导,现报告如下: 相似文献
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Homozygotes for Huntington's disease 总被引:5,自引:0,他引:5
N S Wexler A B Young R E Tanzi H Travers S Starosta-Rubinstein J B Penney S R Snodgrass I Shoulson F Gomez M A Ramos Arroyo 《Nature》1987,326(6109):194-197
Careful comparison of symptomatic individuals with normal controls has revealed the primary biochemical abnormality in many human genetic diseases, particularly recessive disorders. This strategy has proved less successful for most human disorders which are not recessive, and where a single copy of the aberrant gene has clinically significant effects even though the normal gene product is present. An alternative approach that eliminates the impediment of a normal protein in affected individuals is to study homozygotes for the mutant allele. For virtually all dominant human disorders in which homozygotes have been described, symptoms have been significantly more severe in the homozygote than in the heterozygote. Thus, these disorders do not conform to the classical definition of dominance which states that homozygotes and heterozygotes for a defect are phenotypically indistinguishable. Instead, they display incomplete dominance, indicating that the normal allele may play a role in ameliorating the disease process. The D4S10 locus, defined by the probe G8 and linked to the gene for Huntington's disease (HD), has permitted us to identify individuals with a high probability of being homozygous for this autosomal dominant neurodegenerative disorder. These homozygotes do not differ in clinical expression or course from typical HD heterozygotes. HD appears to be the first human disease of genetically documented homozygosity that displays complete phenotypic dominance. 相似文献
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阐述了隐性素质的含义,指出图书馆员应具有的隐性素质及提高图书馆员隐性素质的必要性,提出了提高图书馆员隐性素质的对策. 相似文献
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彭锐 《科技情报开发与经济》2004,14(11):96-97
介绍了隐性管理的概念及意义,从图书馆馆风、馆貌,图书馆品质和提但是尊重教育理念等方面阐述了图书馆隐性管理的基本内容,指出图书馆隐性管理的基本内容就是图书馆隐性文化建设。 相似文献
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