该病属常染色体隐性遗传，与X-染色体关联，所以，母亲是基因携带者的男性表现为发病。
The disease is autosomal-recessive and linked to the X-chromosome, so that men whose mothers are carriers of the gene manifest the disease.
由于常染色体上出现突变基因而导致的疾病。
A disease caused by the presence of two recessive mutant genes on an autosome.
基因（常为种内同源基因）间功能有重叠的现象。
Redundancy --- The situation in which genes (often paralogous) have overlapping functions.
所查杯状耳均无耳聋病史及其它部位畸形。结论：杯状耳的形成是由父母双方中一方杯状耳基因决定的，家系分析显示为常染色体显性遗传。
Conclusion:The family investigation suggested that the formation of cup ear was determined by the cup ear gene of an affected parent and it was an autosomal dominant inheritance.
目的探讨纯合子定位法在罕见常染色体隐性遗传病致病基因精确定位中的作用。
Objective To evaluate the role of homozygosity mapping in the fine mapping of the genes responsible for the rare autosomal recessive diseases.
在分子水平上，肿瘤的发生常涉及多基因参与，是一个多阶段、多步骤的复杂的生物学过程。
On the numerator level, the tumor often involves the gene of participation and it is a biology process that has many stages, and steps.
方法：筛选出患长qt综合征1型的家庭成员，并鉴定KCNQ1基因中一个常染色体显性遗传突变基因(R190 Q)。
Methods We screened a family affected by long-QT syndrome type 1 and identified an autosomal dominant missense mutation (R190Q) in the KCNQ1 gene.
利手和叠腿很可能均为常染色体单基因遗传，利手右型和叠腿右型分别为显性性状；
The hereditary mode of handedness or folding leg was likely the dominant heredity of single gene of autosome, and the right type of them was the dominant character.
MGMT基因的失活常导致原癌基因的激活。
The inactivation of MGMT gene may urge the proto oncogene activation.
卷舌和尖舌均为常染色体单基因显性遗传，能卷舌型和能尖舌型分别为显性性状；
The hereditary mode of rolling tongue or pointed tongue was the dominant heredity of single gene of autosome, and the can-rolling type or can-pointed type was the dominant character.
虽然基因治疗有风险，思拉舍还是认为基因治疗比常需配合化学疗法的常规骨髓移植更加安全。
Although there are risks with gene therapy, Thrasher believes it is safer than conventional bone marrow transplants which often involve chemotherapy.
目的：研究华东地区汉族人常染色体显性遗传性多囊肾病(adpkd)基因型与临床表现型的关系。
Objective: to analyze the relationship between the genotype and phenotype of autosomal dominant polycystic kidney disease (ADPKD) in Han nationality in East China.
并且，研究者已经试验从基因角度去弄清楚高密度脂蛋白的功能(即常认为是好胆固醇)，发现其对健康的作用很小。
Already, researchers have tried this genetic strategy to discern the function of high-density lipoprotein, often called "good" cholesterol, and found that it has little effect on health.
翻舌为常染色体单基因隐性遗传，阳性为隐性性状。
Twisting tongue is the recessive heredity of single gene of autosome, while the positive type is the recessive character.
PTEN肿瘤抑制因子在乳腺癌中虽常呈失表达，但并不是通过基因突变或促进子甲基化而实现的，因此其失表达的机制还不清楚。
Expression of the PTEN tumor suppressor is frequently lost in breast cancer in the absence of mutation or promoter methylation through as yet undetermined mechanisms.
牛白细胞粘附缺陷病(BLAD)是一种常染色体单基因隐性遗传疾病，病因为白细胞表面整合素cd 18亚单位基因突变所致。
Bovine leukocyte adhesion deficiency (BLAD) is autosomal recessive disease. The pathogeny of BLAD is genic mutation of CD18-integrins on the leukocyte.
错牙合畸形是多基因遗传病，常表现家族遗传倾向。
Wrong tooth adds up to deformation is polygene hereditary disease, often behave familial and genetic tendency.
遗传性无纤维蛋白原血症是一种由于纤维蛋白原基因缺陷所致常染色体隐性遗传病。
Congenital afibrinogenemia is a rare autosomal recessive disorder, characterized by the complete absence or extremely reduced level of fibrinogen.
目前根据遗传方式分为1型（常染色体显性）和2型（常染色体隐性） ，每一型根据不同基因缺陷又分为许多亚型。
The limb-girdle muscular dystrophies are divided into two types according to inheritance pattern, type 1 is autosomal dominant and type 2 is autosomal recessive.
结果IEP不符合多基因遗传，而主要为常染色体隐体遗传。
Results The genetic pattern of IEP is not polygenic but is mainly influenced by autosomal recessive disorders.
摘要在水稻功能基因的图位克隆中，常需要高密度的分子标记，而目前公布的各种标记的密度还远未达到令人满意的程度。
Abstract: the high-density markers are necessary for map-based cloning of rice genes, but the available marker could not reach the satisfying level.
AT M基因突变可导致共济失调毛细血管扩张症(AT)，一种常染色体隐性遗传病，该病特点是不协调的肌肉运动和神经退化。
Mutations in the corresponding ATM gene result in ataxia telangiectasia (at), an autosomal recessive disease characterized by uncoordinated muscle movement and neurodegeneration.
单倍型分析显示先证者及女儿具有相同的致病单倍型。结论报道了中国人常染色体显性遗传ed MD患者的表现型及基因型。
Haplotype analysis indicated that the proband and her daughter Shared the same causative haplotype. Conclusion This is the first report of the phenotype and genotype of AD-EDMD in Chinese.
由于甜菜的高度自交不亲和性，常导致优良植株基因型的丢失，给优良育种材料的保存带来了很大的困难。
Since high degree of sugar beet self-incompatibility, it often leads to loss of fine individual genotype, and is hard to keep good breeding material for breeding.
前言： 目的：探讨DJ-1基因与中国人常染色体隐性遗传早发型帕金森病（AR EP）家系的关系。
Objective:To detect the possible relationship between DJ-1 gene and the Chinese 3 pedigrees with autosomal recessive early-onset Parkinson s disease(AREP).
对2个完整的三代家系和51个核心家系的系谱分析，发现瓣状甲的遗传特点与常染色体单基因显性性状一致。
Analyzing the data of 51 nuclear families and 2 families with 3 generations, it was found that petaloid toenail had the same hereditary characters as a dominant single-gene trait.
对2个完整的三代家系和51个核心家系的系谱分析，发现瓣状甲的遗传特点与常染色体单基因显性性状一致。
Analyzing the data of 51 nuclear families and 2 families with 3 generations, it was found that petaloid toenail had the same hereditary characters as a dominant single-gene trait.
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