proband
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n. (遗传疾病研究中家系的)渊源者
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,基人;
英英释义
Proband
Proband, or propositus, is a term used most often in medical genetics and other medical fields to denote a particular subject (person or animal) being studied or reported on. On pedigrees, the proband is noted with an arrow and the box (male) or circle (female) shaded accordingly.
以上来源于:Wikipedia
权威例句
Familial risk of migraine: variation by proband age at onset and headache severity.Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus.
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene
Family-based analysis of genetic variation underlying psychosis-inducing effects of cannabis: sibling analysis and proband follow-up
Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense ...
Accuracy of proband reported family history: The NHLBI Family Heart Study (FHS)
Estimating effects of proband characteristics on familial risk: II. The association between age at onset and familial risk in the Ma...
Tandem duplication dup(X)(q13q22) in a male proband inherited from the mother showing mosaicism of X-inactivation
When Assessing Twin Concordance, Use the Probandwise Not the Pairwise Rate.
Grundsätze ordnungsmäßiger Modellierung
proband (n.)
1929, from Latin probandus, gerundive of probare "to make good, esteem good; make credible, show, prove, demonstrate" (see prove).
1. No variant was found in EXT2 gene of this proband.
先证者EXT2基因没有发现变异。
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2. 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。
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3. 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。
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4. The proband as well as his mother and uncle from family tree 2 may all suffer fromdvsaudia in both ears without any cause and with rapid exacerbation of the disease and dcafness at last,1 to 2 vears after birth.
家系2先证者与其母亲和舅舅均于出生后1~2年发生不明原因双耳听力障碍,迅速加重终至聋哑。
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5. The whole X chromosome of both the proband III-3 and his mother could be stained with X chromosome staining probe.
FISH示先证者及其母亲的X染色体全被涂染 ;
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6. The proband of pedigree D has high expression of fragile X chromosome(17%),his sister also has expression of fragile X chromosome(5%). By further detection with molecular genetic test,the proband is a full mutation patient of fragile X syndrome,and his sister is a mosaic patient.
D家系先证者脆性X染色体高表达17%,其姐姐脆性X染色体5%,分子遗传学检查证实先证者为脆性X综合征全突变患者,其姐姐为嵌合体患者;
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proband




