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微缺失
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  microdeletion
     TBX1 Gene and Chromosome 22q11.2 Microdeletion Syndrome
     TBX1基因与染色体22q11.2微缺失综合征
短句来源
     Chromosome 22q11.2 Microdeletion Syndrome and TBX1 Gene
     染色体22q11.2微缺失综合征与TBX1基因
短句来源
     Chromosome 22q11.2 microdeletion syndrome (22q11.2DS) is the most common microdeletion syndrome in human.
     染色体22q11·2微缺失综合征(22q11·2DS)是人类最常见的染色体微缺失综合征。
短句来源
     FISH confirmed that 5 of the 50 VSD patients had a deletion within chromosome 22q11.2. Conclusion: Three STRP markers (D22S944, 22D_4_2 and 22D_4_3) (analysis) combined with FISH as a supplementary is an efficient and reliable approach for detection of (22q11.2 microdeletion.)
     50例VSD患儿中5例由STRP分析检出有微缺失,均经FISH检测证实。 结论:选取3个高信息量的位点(D22S9442、2D_4_2、22D_4_3)进行STRP初筛分析,必要时结合FISH检测是一种有效可行、值得推广的检测22q11.2微缺失的诊断方法。
短句来源
     Results Y chromosome microdeletion was found in 16 (13.01%) of 123 azoospermia patients.
     结果123例原发性无精子症患者中,16例发生了Y染色体微缺失,缺失率13.01%。
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  “微缺失”译为未确定词的双语例句
     Multiplex PCR was used to detect the sequence-tagged sites(STS)as follows:sY84、sY86、sY127、sY134、sY152、sY153、sY254、sY255,and ZFX/Y was used as internal control gene.
     确定了8个实验用序列标签位点(STS),分别是:sY84、sY86、sY127、sY134、sY152、sY153、sY254、sY255,并以X/Y连锁锌指蛋白基因(ZFX/Y)为内对照进行多重PCR筛查AZF微缺失
短句来源
     Results: The microdeletions of AZF loci were found in 18 of 51 patients (35.3%),of which the deletion involved in AZFa,AZFb,AZFc,AZFa+b,AZFb+c and AZFa+b+c was 4 (7.8%),5 (9.8%),4 (7.8%),1 (1.9%),2 (3.9%) and 2 (3.9%),respectively.
     结果  5 1例患者缺失率为 35 .3% (18/ 5 1) ,其中AZFa、AZFb、AZFc的微缺失分别为 4例 (7.8% )、5例 (9.8% )和 4例 (7.8% )。 无精子症患者 1例 (1.9% )为AZFa、AZFb的双重缺失 ,2例 (3.9% )为AZFb、AZFc的双重缺失 ;
短句来源
     Rapid Detection of the 22q11 Deletion with Quantitative Real-time PCR
     实时荧光定量PCR快速诊断22q11微缺失
短句来源
     The DYS1 gene is a candidate gene for AZF gene.
     DYS1基因微缺失与特发性男性不育有关联,DYS1基因是AZF候选基因。
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     Conclusion These data indicated that WS could be diagnosed in children with SVAS whose Lowery′s scoring was more than 4. Microdeletions of ELN gene and LIMK1 gene were demonstrated in children with WS.
     结论 SVAS患儿中 ,Lowery的WS表现型评分大于 4分者可诊断为WS ,WS患儿存在ELN基因和LIMK1基因的微缺失
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  相似匹配句对
     INVESTIGATION OF MICROSATELLITE LOSS OF HETEROZYGOSITY IN LEUKEMIA
     白血病卫星杂合性缺失的研究
短句来源
     Screening for Y Chromosomal Microdeletions in AZF Region with Modified Multiplex PCR
     改良多重聚合酶链反应检测Y染色体AZF缺失
短句来源
     Micro-accelerometer
     加速度计
     Nondifferentiable D.
     不可D.
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     the teaching situation is lacked;
     教学情境缺失;
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  microdeletion
Microdeletion analysis employed multiplex PCR with 22 pairs of primers directed to Y-specific STS of deletion intervals 5, 6, and 7 (Yq11).
      
We studied the spectrum of mutations in the phenylalanine hydroxylase gene in a group of patients with PKU from the Novosibirsk region to reveal 10 missense point mutations, 1 mutation in the splice donor site, and 1 microdeletion.
      
In these patients microdeletion analysis was performed by multiplex polymerase chain reaction (PCR) method on DNA extracted from peripheral blood.
      
Microdeletion of chromosome 7q, encompassing the elastin locus, has been identified in patients with Williams syndrome (WS).
      
A microdeletion at chromosome 22q11 is the most frequently known interstitial deletion found in humans, occurring in approximately one of every 4000 lifve births.
      
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Objective:To study the relationship between microdeletion on Y chromosome and the patients with idiopathic azoospermia and severe oligozoospermia and establish the molecular detection method for the patients with azoospermia and severe oligozoospermia. Methods: Microdeletion detection at the AZFa?AZFb?AZFc/DAZ?SRY region of Y chromosome in 72 azoospermia and 28 severe oligozoospermia patients was performed using the PCR technique. Results: Twelve patients with AZFc/DAZ micodeletion, including 8 azoospermia(11.1%...

Objective:To study the relationship between microdeletion on Y chromosome and the patients with idiopathic azoospermia and severe oligozoospermia and establish the molecular detection method for the patients with azoospermia and severe oligozoospermia. Methods: Microdeletion detection at the AZFa?AZFb?AZFc/DAZ?SRY region of Y chromosome in 72 azoospermia and 28 severe oligozoospermia patients was performed using the PCR technique. Results: Twelve patients with AZFc/DAZ micodeletion, including 8 azoospermia(11.1% )and 4 severe oligozoospermia(14.3%), had been found and 1 patient with AZFb and AZFc/DAZ double deletion had been found; the deletion of AZFa and SRY region hadn't been found. The deletion of AZFa?AZFb?AZFc/DAZ?SRY region hadn't been found in 60 normal men with children. Conclusion: Microdeletion on Y chromosome, especially AZFc/DAZ, is a major cause of azoospermia and severe oligozoospermia leading to male infertility. It is necessary that we detect microdeletion on Y chromosome when genetic counseling and ICSI.

目的 :研究特发性无精症和严重少精症患者与 Y染色体微缺失的关系 ,建立无精症和严重少精症患者 Y染色体微缺失的分子检测方法。方法 :应用 PCR技术对 1 0 0例无精症和严重少精症患者 (其中无精症 72例 ,严重少精症 2 8例 )进行 Y染色体 AZFa、AZFb、AZFc/DAZ、SRY的微缺失检测。结果 :1 2例患者 (1 2 % )有 AZFc的微缺失 (其中无精症 8例 ,占 1 1 .1 % ;严重少精症 4例 ,占 1 4.3% ) ,且其中 1例无精症患者为 AZFb、AZFc双重缺失 ;所有病例未发现有 AZFa的缺失 ;SRY基因 PCR扩增均为阳性。6 0例已有生育的正常男性均无 AZFa、AZFb、AZFc、SRY微缺失。结论 :Y染色体微缺失 ,特别是 AZFc/DAZ的缺失是引起无精和严重少精、造成男性不育的重要原因之一 ,在进行遗传咨询和行卵细胞质内注入精子术 (ICSI)时 ,有必要对不明原因的不育男性患者进行 Y染色体微缺失的分子检测

Objective Supravalvular aortic stenosis (SVAS) is a type of left ventricular outflow obstruction. It occurs in three settings: Williams syndrome (WS), autosomal dominant familial cases, and sporadic cases. Most patients with SVAS have WS. WS is a developmental disorder affecting multiple organ systems, involving the vascular, connective tissue, and central nervous systems. This study aimed at discussing the criteria of WS in China by evaluating the clinical features and detecting gene deletions in children...

Objective Supravalvular aortic stenosis (SVAS) is a type of left ventricular outflow obstruction. It occurs in three settings: Williams syndrome (WS), autosomal dominant familial cases, and sporadic cases. Most patients with SVAS have WS. WS is a developmental disorder affecting multiple organ systems, involving the vascular, connective tissue, and central nervous systems. This study aimed at discussing the criteria of WS in China by evaluating the clinical features and detecting gene deletions in children clinically diagnosed to have SVAS. Method Twenty six children (17 males and 9 females) with SVAS who presented to the Xinhua Hospital affiliated to Shanghai Second Medical University and Shanghai Children′s Medical Center between November 1997 and December 1999 were enrolled. These children were followed up for a median duration of 6.3 (range 1.1 to 19.5) years. Diagnosis of SVAS and non SVAS congenital heart diseases was based on physical examination, echocardiography, cardiac catheterization and angiography. Mostly the clinical features of WS in these children were assessed according to Lowery′s WS phenotype scoring system, which included typical facial features, mental retardation /developmental delay, SVAS, non SVAS congenital heart disease, inguinal hernia, and hypercalcemia. All the children also underwent an evaluation of minor medical problems of WS, involving WS personality, weight, head circumference, voice, and ocular, auditory, gastrointestinal, genitourinary, and musculoskeletal organ systems. Fluorescent in situ hybridizations (FISH) were used to detect the microdeletions of elastin (ELN) gene and LIM kinase 1 (LIMK1) gene in all the children. Result Nineteen children, whose WS phenotype scoring was more than 4, showed the gene microdeletions. Children whose scoring was equal to 4 ( n =3) or less than 4 ( n =4) did not demonstrate deletions. Conclusion These data indicated that WS could be diagnosed in children with SVAS whose Lowery′s scoring was more than 4. Microdeletions of ELN gene and LIMK1 gene were demonstrated in children with WS.

目的 通过临床表现和实验室检查探讨我国主动脉瓣上狭窄 (SVAS)患儿中Williams综合征 (WS)的诊断标准。方法 对 2 6例因SVAS就诊的患儿 ,根据Lowery的WS表现型评分表对主要症状进行评分 ,同时观察患儿一般症状 ,并采用荧光原位杂交 (FISH)技术检测WS相关的弹性蛋白(ELN)基因和LIM激酶 1(LIMK1)基因的微缺失情况。结果  2 6例SVAS患儿中 ,WS表现型评分大于4分者 19例 ,均存在ELN基因和LIMK1基因的微缺失。等于 4分者 3例 ,小于 4分者 4例 ,均未检测到相关基因的缺失。结论 SVAS患儿中 ,Lowery的WS表现型评分大于 4分者可诊断为WS ,WS患儿存在ELN基因和LIMK1基因的微缺失

Objective To assess the relationships between idiopathic oligospermia or azoospermia and microdeletions in the Y chromosome. Methods 18 Y-linked sequence-tagged sites in AZF region were screened by means of multiplex PCR in 38 idiopathic oligospermia or azoospermia, including 11 azoospermia, 9 severe oligospermia, 18 oligospermia. Results Microdeletions in the genomic DNA were observed in 6 of 38 cases, 2 being in men with azoospermia,1 in severe oligospermia and 3 in oligospermia. The two formers were...

Objective To assess the relationships between idiopathic oligospermia or azoospermia and microdeletions in the Y chromosome. Methods 18 Y-linked sequence-tagged sites in AZF region were screened by means of multiplex PCR in 38 idiopathic oligospermia or azoospermia, including 11 azoospermia, 9 severe oligospermia, 18 oligospermia. Results Microdeletions in the genomic DNA were observed in 6 of 38 cases, 2 being in men with azoospermia,1 in severe oligospermia and 3 in oligospermia. The two formers were AZFd(DYS 237) +AZFc (DAZ+DYS 240),the latter was AZFd(DYS 237) in the deletion types.The total deletion rate was 16%(6/38). Conclusions Microdeletions of the Y chromosome is an important reason of idiopathic oligospermia or azoospermia . Multiplex PCR is a useful technique for detecting microdeletions.

目的 探讨原因不明性无精症和少精症不育男性与Y染色体微缺失的关系。 方法 应用多重PCR技术 ,对 38例原因不明性无精症和少精症者 (无精症 11例、严重少精症 9例、少精症 18例 )基因组DNA进行Y染色体连锁的 18个序列标记位点缺失检测。 结果  38例中发现Y染色体微缺失 6例 ,缺失率为 16 % ,其中无精症 2例 ,严重少精症 1例 ,少精症 3例。缺失形式前两者为AZFd(DYS 2 37) +AZFc(DAZ +DYS 2 40 ) ,后者为AZFd(DYS 2 37)。 结论 Y染色体微缺失是原因不明性无精症和少精症的重要原因之一。采用多重PCR技术进行缺失检测 ,是一种非常有效的方法。

 
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