Diagnosing X-linked Ichthyosis by Monoplast Single-round Duplex PCR 单细胞单轮二重PCR诊断X-连锁鱼鳞病
As an X-linked condition, choroideremia usually affects men, leading to severe vision loss or blindness in middle age. 作为一个X-连锁的条件,无脉络膜通常会影响男性,导致严重的视力减退或中年失明。
Objective: To investigate the possibility of X-linked dominant genetic model in unipolar depression. 目的:探讨单相抑郁症X连锁显性遗传方式的可能性。
Analysis of the Causing Mutation and Research on X-linked Gene of Leber's Hereditary Optic Neuropathy Families Leber遗传性视神经病变家系致病基因筛查和X染色体修饰基因的研究
The Expression of Zinc Finger Protein X-linked in Human Gliomas 锌指蛋白Zfx在人脑胶质瘤中的表达与意义
Like other X-linked disorders such as color blindness and muscular dystrophy, genetic mutation causing a son's infertility could be passed from his mother. 像色盲,肌营养不良等X连锁的疾病一样,由遗传突变导致的不育可以从母亲传给儿子。
ABSTRACT: Objective To identify the mutations of ED1 gene in a family with X-linked hypohidrotic ectodermal dysplasia. 摘要:目的利用直接测序法对一中国汉族人X性连锁少汗性外胚叶发育不良家系进行基因诊断。
X-linked Inhibitor of Apoptosis Protein cDNA Transfection on Ovarian Carcinoma Cell Tolerance to Cisplatin X连锁凋亡抑制蛋白cDNA转染与卵巢癌细胞顺铂耐药性
Sex-limited& A trait that is expressed in only one sex, although the gene that determines the trait is not X-linked. 某一特别指定表型只限于在一种性别中表现的遗传征象,并不是都是X-连锁基因。
Her team focused on a particular protein involved in the NF-kappa B pathway called the "X-linked inhibitor of apoptosis"( XIAP). 她的小组集中于包含在NF-κB通路中称为X样凋亡抑制蛋白(XIAP)的一个特别的蛋白。
Although these X-linked, germ cell-specific genes undergo inactivation during later stages of male meiosis, they play a role in the early stages. 虽然这些X连锁的,特异表达于精子细胞的基因在雄性减数分裂后期被沉默了,但他们参与了减数分裂早期的过程。
Skewed X Chromosome Inactivation and Imprinted/ X-linked Gene Expression in Human Embryonic Stem Cells 人类胚胎干细胞X染色体倾斜性失活及印迹、X连锁基因表达状态
Expression and significance of X-linked inhibitor of apoptosis protein in bladder cancer X连锁凋亡抑制蛋白在膀胱癌的表达及其意义
Female mosaicism of the X chromosome has major implications for human health and disease and is the leading cause of female protection from X-linked genetic disorders. 女性作为X染色体的杂合子在人类的健康与疾病中及重要作用,并可避免X连锁遗产性疾病在女性中发生。
Identification and Characterization of the Gene Responsible for a Novel X-Linked Mental Retardation Syndrome 一种新的X连锁精神发育迟滞综合征的致病基因克隆和功能分析
Medically, the condition is called X-linked Severe Combined Immunodeficiency ( X-SCID). 在医学上,这种情况称为X连锁重症联合免疫缺陷(X-SCID)。
Effects of X-linked inhibitor of apoptosis protein on cultured cardiomyocytes of neonate rat apoptosis induced by hypoxia/ reoxygenation X染色体连锁凋亡抑制蛋白对缺氧-复氧诱导的新生大鼠心肌细胞凋亡的影响
Clinical and genetic analysis of 10 cases with X-linked agammaglobulinemia 10例X连锁无丙种球蛋白血症的临床分析和基因诊断
Objective To detect ED1 gene mutations in the families with X-linked hypohidrotic ectodermal dysplasia ( XLHED). 目的探讨X性连锁少汗性外胚层发育不良(XLHED)家系中ED1基因突变。
Genetic analysis showed that the disease is inherited in X-linked recessive heredity. Female carriers have partial symptoms. 遗传学分析表明该病为X连锁隐性遗传,携带者也有不同程度的表现。
Objective: to discuss the possibility of prenatal diagnosis of X-linked genetic disease with fetal cells in maternal blood. 目的:探讨利用母血胎儿有核红细胞进行性连锁遗传病产前诊断的可行性;
Investigation of STS Gene in a Pedigree with X-Linked Ichthyosis X性联锁遗传鱼鳞病一家系的STS基因研究
Conclusion: Mutations of ALD gene is the causes of X-linked recessive adrenoleukodystrophy in Chinese population. 结论ALD基因突变是中国人X-连锁隐性遗传ALD发病原因之一。
It is concluded that this is a MSS family X-Linked recessive inheritance. 结论认为该MSS家系为X连锁隐性遗传。
Investigation on genetic linkage analysis of X-linked retinitis pigmentosa using microsatellite markers 应用微卫星多态位点对X连锁型视网膜色素变性疾病进行遗传连锁分析的研究
Objective To carry out prenatal molecular diagnosis on 3 fetuses from different pedigrees with X-linked adrenoleukodystrophy ( ALD). 目的对3名来自不同家系的肾上腺脑白质营养不良(ALD)携带者所怀胎儿进行产前分子诊断。
Objective To improve the recognition and diagnosis of X-linked hypophosphatemia ( XLH). 目的提高对X-连低磷酸盐血症的认识和诊断。
Inherited Pituitary Dwarfism can be inherited in autosomal dominant, autosomal recessive, or X-linked patterns. However, autosomal recessive is the most common form of it. 先天性垂体性侏儒症的遗传方式有常染色体显性遗传,常染色体隐性遗传和X染色体遗传,其中常染色体隐性遗传是最常见的一种,目前已发现该疾病的致病基因有17个。
In families, The inheritance patterns are autosomal dominant, autosomal recessive or X-linked recessive. 在家族中,致病基因可以常染色体显性、常染色体隐性或X连锁遗传的方式传递。