释义 |
pro·band 英'prəʊbənd美'probænd COCA¹⁰³⁴⁶⁶BNC¹²⁶⁴¹⁶⁺⁴iWeb⁵⁸³⁴⁴ 基本例句 n.家系研究中尤指遗传疾病的家属史研究中的 渊源者;先证者⁸⁹;基人¹¹ Objective: To investigate the law and the state of prevalence in family on5 cases of proband of adult polycystic kidney disease. 目的了解5例成人型多囊肾先证者家族中的患病情况及患病规律。 cnki The higher the extent of the relation to the proband is, the higher the prevalence is. 其亲属发病率高低与血缘关系近远相关,与先证者血缘关系越近的亲属患病率越高; cjrh 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. 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EDMD患者的表现型及基因型。 d.wanfangdata.com.cn In contrast, direct DNA sequencing requires only a single sample from the proband. 相比之下,直接测序只需要被检测者的血样。 kekenet Methods: Pedigree investigation and pathological examination in the muscle biopsy of the proband and his aunt were carried out. 方法:对该家系进行家系调查,对先证者及其姑母进行肌活检组织学观察。 d.wanfangdata.com.cn Methods: Pedigree investigation and pathological examination in the muscle biopsy of proband and his aunt were carried out. 方法:对该家系进行家系调查,对先证者及其姑母进行肌活检组织学观察。 cnki Methods: The clinic data and the laboratory results were analyzed in the proband and the other people in the family. 方法:对先证者及其家族的临床资料、实验室检查进行分析。 chemyq Methods: Thyroid hormone was detected in total13 persons including the proband and his12 relatives. 方法:调查包括先证者3代家系成员共计13人,检测血清甲状腺激素。 cnki Methods DNA was extracted from peripheral blood of the proband and her parents. The GJB2, GJB6 and GJB3 gene mutations were analyzed by direct sequencing PCR products. 方法采集先证者及其父母外周血并提取 DNA,对 GJB2、 GJB6、 GJB3基因编码区进行 PCR扩增,以直接测序的方法进行突变分析。 cnki Molecular genetic analysis of each proband was performed by direct DNA sequencing of the entire coding region of KCNJ2. 通过直接 DNA测序,对先证者的 KCNJ2全部编码区进行分子遗传学分析,同时筛查对照受试者。 cnki One of the important strategies in the prevention and cure of HNPCC is to find the proband and give the family genetic counseling. 目的发现 HNPCC家系并对家族提供遗传咨询是 HNPCC防治的一个重要策略。 cnki Results No mutation of GJB6 and GJB3 genes was found in the proband and her parents. 结果先证者及其父母 GJB3、 GJB6基因测序未发现突变。 cnki Results A homozygous mutation at exon13 of the proband was found by parallel TGGE. Homozygous and heterozygous mutations were also found in the family by parallel TGGE. 结果平行 TGGE发现,两患儿第13外显子存在一纯合突变,其父母此外显子存在杂合突变。 cnki Results The family history was consistent with a maternal inheritance and the proband exhibited a typical clinical feature of LHON. 结果该家系显示为典型的母系遗传,先证者的临床表现为典型的 LHON患者表现; cnki The results showed that phenotype of the proband was diagnosed as afibrinogenemia. 结果表明:先证者表型诊断为无纤维蛋白原血症; cnki The proband accepted chromatosome karyotype analysis and operation with artificial stapes prosthesis. 对先证者进行染色体核型分析,并实施了左耳的人工镫骨安装手术。 cnki The proband's twin sister also suffered from diabetic mellitus over2 years and recurrent vertigo. 另一孪生妹妹在2年前亦发现糖尿病,曾经有过头晕发作。 cnki This paper reports the clinical hematological data of proband and the results of gene analysis, as well as a preliminary discussion on the characteristics and significance of its distribution. 现报告先证者的临床血液学资料和基因分析结果,并对它的分布特点和意义进行初步讨论。 cnki |