尚未发现临床表型与基因型间的关系。
No clear relationship was confirmed between the mutation spots and the clinical phenotype of HHD.
糖尿病患者临床表型在中医各证型间并不存在差异。
There were no statistical differences in Chinese medical syndromes, in clinical phenotype of diabetic patients.
抗mpo抗体免疫学特性的差异可能与患者不同临床表型相关。
The difference in immunological characteristics of MPO-ANCA might contribute to different disease expression.
进一步分析这种多态性对COPD患者肺功能和临床表型的影响。
We analysed the influence of polymorphism on lung function and clinical phenotype in COPD patients.
L127F突变可能为致病性突变，与严重的临床表型相关联。
The novel mutation L127F was considered as a pathogenetic mutation and associated with severe clinical phenotype.
③父系遗传与母系遗传后代发病年龄及临床表型均无统计学差异。
There was no significant difference of mean age of onset and disease severity between patients of paternal inheritance and maternal inheritance.
方法对以上家系进行临床表型观察，计算表型分布频率和表型基因频率。
Methods Clinical observation was conducted to calculate the phenotypic distribution frequency and gene frequency.
目的：了解中国人群中类脂蛋白沉积症(LP)的临床表型和遗传学特点。
Objective: To explore the clinical and genetic features of lipoid proteinosis (LP) in Chinese population.
临床表型存在高度的异质性，是否与生活习惯或基因多态性有关有待进一步研究。
Further study is warranted to investigate the association of this heterogeneity with lifestyle or genetic information.
目的：调查和分析中国人牙本质发育异常家系及临床表型，进一步明确其诊断和分型。
Objective: To investigate and analyze phenotypes in Chinese families with dentinogenesis imperfecta(DGI) and dentin dysplasia(DD).
目的探讨面肩肱型肌营养不良症（FSHD）1A的基因型与临床表型之间的相关关系。
Objective To explore the genotype-phenotype correlation of facioscapulohumeral muscular dystrophy (FSHD) 1A gene.
目的：研究男性原发性无精及严重少精症患者Y染色体AZF微缺失区域与临床表型的关系。
The analysis of correlation between karyotype and AZF microdeletion on Y chromosome for patients with azoospermia and severe oligozoospermia.
目的观察正常细胞核型中含有极少量21 -三体细胞的患儿临床表型及发育损害的相关关系。
Objective: a few trisomy 21 cells in normal chromosome karyotype was been observed for study of the correlation of clinical phenotype and development damage in sick children of Down's syndrome.
对于遗传性内分泌代谢病的诊断，以往主要依赖临床表型分析和生化检查，同时结合其遗传模式。
In the past, the diagnosis of inherited endocrine and metabolic diseases largely depended on the clinical manifestations, biochemical examinations and genetic modes.
该位点基因突变异质性水平与亲缘关系、抽搐发作的早现性和血浆乳酸检测值等临床表型存在相关性。
The mutant heteroplasmy levels are positively associated with genetic relationship, seizure anticipation, plasma lactate data and other clinical features.
目的研究中国人家族性肥厚型心肌病(HCM)的致病基因突变位点，分析基因型与临床表型的相互关系。
Objective to study the disease-causing gene mutations in Chinese hypertrophic cardiomyopathy (HCM) and to reveal the relationship between the genotype and the phenotype.
目的探讨X-连锁迟发性脊椎骨骺发育不良（SEDL）基因逃避X染色体失活（XCI）及与临床表型的关系。
Objective To explore the relationship between X - linked spondyloepiphyseal dysplasia tarda (SEDL) gene escaping X chromosome inactivation( XCI) and SEDL phenotype.
目的：报告1个父子间AZFc缺失自然遗传的罕见家系，探讨该家系相同缺失类型导致不同临床表型的可能机制。
Objective: To report a rare family of AZFc deletion with natural transmission and explore the potential mechanism by which identical microdeletions cause different phenotypes.
一个简单的方法是根据临床表型，大小，病灶数目，是否存在血管侵犯来判断，后者在我看来最重要的还是预后特征。
One is based simply on the clinical phenotype, size, number of lesions, presence or absence of vascular invasion, the later in my opinion is still the most important prognostic feature.
结论该老年白内障患者MYH9基因未见致病性突变，其具有的严重临床表型可能与存在新的基因突变类型或新的致病基因有关。
Conclusions the presenile cataract with serious clinical entities may be resulted from a novel mutation or another novel pathogenic gene with MYH9? RD.
目的通过对1例21号环状染色体综合征患者的细胞遗传学分析，探讨21号环状染色体的形成原因，临床表型与染色体区带的关系。
Objective to search the forming cause and the correlation between the clinical phenotype and chromosome band by the cytogenetic analysis on a case of ring chromosome 21 syndrome.
Veltman认为，致病突变的鉴定有可能让临床医生进行疾病的产前检测，同时为有着相似表型的其它疾病提供了线索。
Veltman said that identifying the causative mutation could potentially enable clinicians to do prenatal testing for the disorder and also could shed light on other diseases with similar phenotypes.
不同基因型决定相同表型的现象。参见等位基因异质性、临床异质性和基因座异质性。
Genetic lethal --- A mutant allele or genetically determined trait that leads to failure to reproduce, although not necessarily to death prior to reproduction.
方法：采用临床、实验室检查方法对3例患儿进行详细的体检，并分析导致出现牙根发育不良表型的遗传学因素。
METHODS: 3 children with hypoplasia of teeth were examined and analyzed carefully by clinical examination and laboratory test to find the genetic factors.
目的探讨异位错构瘤性胸腺瘤的临床病理学特征、免疫学表型和组织发生。
Objective to study the clinicopathological and immunohistochemical features of ectopic hamartomatous thymoma (EHT), and to discuss its histogenesis.
目的分析小儿急性白血病(AL)的免疫表型、异倍体、细胞周期分布状况的临床意义。
Objective To analyse the clinical significance of the immunophenotype, aneuploidy and cell circle distribution in children with acute leukemia (al).
目的分析急性早幼粒细胞白血病（APL）免疫表型特点及其临床意义。
Objective To investigate the immunophenoytpe of acute promyelocytic leukemia(APL) and its clinical significance.
目的：探讨原发于睾丸的类癌临床病理学特征、免疫表型、鉴别诊断及其组织起源。
Objective: to study the clinicopathological characteristics, immunohistochemical features and histogenesis of primary testicular carcinoid tumor and its differential diagnosis.
目的探讨头皮鳞样小汗腺导管癌的临床病理和免疫表型特征及诊断与鉴别诊断。
Purpose to explore the clinicopathologic characteristics, immunohistochemistry, diagnosis and differential diagnosis of squamoid eccrine ductal carcinoma of the scalp.
基因型和表型关系的研究也在深入，对该病分子水平的研究可能引起临床治疗学上的新观点。
The study of the relation between genotype and phenotype is embedding, furthermore, researching the diseases on molecular level may produce new concepts of therapy.
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