英语释义

1. an individual affected with a disorder who is the first subject in a study (as of a genetic character in a family lineage)

2. an individual affected with a disorder who is the first subject in a study (as of a genetic character in a family lineage) — called also propositus

片语

proband of pedigree家系先证者

proband concordance rate先证者一致性率

general proband method通用先证者法

proband method[遗]

proband wise concordance先证者发病一致率

propositus proband index case先证者

onus proband举证责任

proband d先证者

英汉例句

• 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。

• carrier testing for at-risk family members may be available once the cbs mutations have been identified in the proband .

  如果先证者的cbs突变被鑒定，也可能提供有风险的家族成员进行携带者检测。

• 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。

• 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；

• conclusions the proband of lamellar ichthyosis in this family shows loss of transglutaminase1activity, which is resulted from a truncated transglutaminase1coded by the homozygous mutant tgm1gene.

  结论板层状鱼鳞病患者转谷氨酰胺酶1的活性完全缺失，是其转谷氨酰胺酶1基因的无义突变，引起编码的蛋白缺陷。

• proband also had special clinical feature including follicular hyperkeratosis on the elbows and knees, and onychodystrophy of 20 nails as well.

  先证者双肘膝关节毛囊角化性丘疹，足趾及跖部灶性胼胝样角化过度，20甲营养不良。

• the results indicated that the proband boar's 13/17 translocation was inherited from his father, not spontaneously occurred.

  该公猪的父亲也携有13/17易位，表明先证者公猪的13/17易位不是自发产生的，而是由其父亲遗传得来的。

• 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。

• 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。

• 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。

• 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癥；

• the result of cephalometric analysis indicated no obvious inherited tendency in the proband in terms of facial osseo type and jaw bone pattern.

  头影测量分析结果提示先证者在骨面型及颌骨形态等方面无明显遗传倾向。

• methods the exons 25, 31~32, 38, and 40 in the myh9 gene of the proband and her affected father were amplified with polymerase chain reaction, and the pcr products were sequenced.

  方法用聚合酶链反应（pcr）技术扩增先证者及其父亲的非肌性肌球蛋白重链9基因（myh9）的2 5、31～32、38、4 0号外显子，分析pcr产物的核苷酸序列。

• methods: family - based nonparametric genome - wide linkage analysis was performed in by either an hlhs or bav proband .

  方法：在有左室发育不全和二叶式主动脉瓣先证者的家系中进行非参数基因组连锁分析。

• results a homozygous mutation at exon 13 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。

• the risk to the sibs of a male proband depends upon the carrier status of the mother.

  男性先证者的同胞的患病风险取决于其母亲的携带者状态。

• 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。

• the proband is a homozygote for this deletion mutation, with milder anemia than that of typical homozygotes of β-thalassemia.

  先证者为这一缺失的纯合子，具有中度贫血癥状。

• methods: thyroid hormone was detected in total 13 persons including the proband and his 12 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。

• 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；

• methods the genomic dna was extracted from the proband and his family members. all the encoding exons and adjacent splice sites of tgm1 gene were amplified by pcr.

  方法提取板层状鱼鳞病患者及家族成员的基因组dna，采用pcr扩增tgm1基因所有的外显子及其邻近的剪切点并进行双向直接测序，并对tgm1基因的同源性进行分析。

• if the mother of the proband is a carrier , the chance of transmitting the disease-causing mutation in each pregnancy is 50%.

  如果先证者的母亲是携带者，则每次怀孕传递致病突变的几率是50%。

• 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。