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分子诊断与治疗杂志 2024年第9期16卷 1613-1617页

作者：李伍高李哲涛范莉唐永梅唐宁秦雪广西医科大学广西医科大学第一附属医院检验科广西南宁530021 柳州市妇幼保健院生殖健康助孕中心柳州市生殖医学重点实验室广西柳州545001 广西妇产疾病临床医学研究中心广西柳州545001

目的探讨通过长读长测序技术构建SNP单体型,为成人常显多囊肾基因(PKD1)致病变异且家系不全患者行胚胎植入前遗传学检测策略提供参考。方法选取2022年1月至2022年9月于柳州市妇幼保健院生殖健康助孕中心就诊的两名患者,分别患有PKD1 c.5... 详细信息

目的探讨通过长读长测序技术构建SNP单体型,为成人常显多囊肾基因(PKD1)致病变异且家系不全患者行胚胎植入前遗传学检测策略提供参考。方法选取2022年1月至2022年9月于柳州市妇幼保健院生殖健康助孕中心就诊的两名患者,分别患有PKD1 c.5976_5978del杂合变异复合PKD1 c.11333C>A杂合变异和PKD1 c.11969 T>G杂合变异导致的常染色体显性遗传多囊肾且家系不全,采集患者夫妻双方外周血提取高质量DNA,通过长读长测序技术构建SNP单体型。活检胚胎滋养外胚层细胞进行全基因组扩增,再利用ASA芯片检测胚胎SNP位点信息,结合长读长测序构建的男女方SNP位点建立连锁分析,分析胚胎变异位点携带情况;同时以Sanger测序检出的受累胚胎作为先证者,利用Karyomapping芯片检测分析胚胎SNP位点单体型;比较两种连锁分析结果的一致性。结果病例1检测5个胚胎,病例2送检4个胚胎。病例1的1号,3号和4号胚胎携带男方PKD1c.5976_5978del致病变异,病例2的1号及4号胚胎均携带有男方PKD1 c.11969T>G致病变异;经Sanger测序均选择1号胚胎作为参照,利用Karyomapping芯片进行连锁分析,病例1的1号,3号和4号,病例2的1号及4号胚胎均携带男方的致病变异,结果与长读长测序家系连锁分析一致。结论对于家系不全PKD1患者,可通过长度长测序进行男女双方的致病位点确定及SNP单体型构建,通过SNP单体型建立连锁分析,从而准确有效的进行胚胎植入前遗传学检测。

关键词： PKD1基因多囊肾单体型构建植入前遗传学检测

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A novel insertion mutation in the ATP7A gene associated with delayed infantile onset of Menkes disease

A novel insertion mutation in the ATP7A gene associated with...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： li wugao Yan Tizhen Tang Ning li Zhetao Huang Jiwei Tan Jianqiang Pan lizhen Cai Ren Key Laboratory of birth defects prevention and control Department of Medical Genetics Liuzhou Municipal Maternity and Child Healthcare Hospital

Objective Determining the relationship between clinical phenotype and genotype in genetic disea ses is important in clinical practice. In general, frameshift mutations are expected to produce pre mature termination codons, leading to production of mutant transcripts destined for degradation b y nonsense-mediated decay. In X-linked recessive diseases, male patients with frameshift mutati ons typically have a severe or even lethal phenotype. Method We report a case of a 22-month-old boy patient with Menkes disease, an X-linked recess ive copper metabolism disorder, caused by mutations in the ATP7 A copper transporter gene. His clinical presentation involved unexpecte dly late onset and milder symptoms. Result His genomic DNA showed a de novo insertion mutation(c.1036 ins T) in ATP7 A gene, pred icting a translational frameshift and premature stop codon, and a classic severe phenotype. Char acterization of his ATP7 A m RNA showed no abnormal splicing. Conclusion We speculated that translation re-initiation could occur downstream of the premature termination codon, and produce a partially functional ATP7 A protein. Study of the patient‘s fibrobl asts found no evidence of translation reinitiation, however the possibility remains that this pheno menon occurred in neural tissues and influenced the clinical phenotype.

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Detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene

Detection and genetic counseling in carriers of spinal muscu...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Yan Tizhen Tang Ning Luo Shiqiang Huang Jiwei Tan Jianqiang li Zhetao li wugao Wang Yuanliu Cai Ren Key Laboratory of birth defects prevention and control Department of Medical Genetics Liuzhou Municipal Maternity and Child Healthcare Hospital

Objective Spinal muscular atrophy(SMA) is an autosomal recessive disease caused by mutation s in the survival motor neuron1 gene(SMN1). Global carrier frequency is around 1 in 50 and carri er detection is crucial to define couples at risk to have SMA offspring. Most SMA carriers have on e SMN1 copy and are currently detected using quantitative methods. A few, however, have two SMN1 gen es in cis(2/0 carriers), complicating carrier diagnosis in SMA. Method We detected 2/0 carriers from a cohort of 1328 individuals, including SMA parents, SMA relatives, and unrelated individuals of the general population, by multiplex ligationdependent prob e amplification(MLPA) methodology and haplotype analysis. Result In two couples who had an SMA child, both the parents had two SMN1 copies. Conclusion Our results emphasize the importance of performing a detailed carrier study in SMA parents with two SMN1 copies. Expanding the analysis to other key family members might confir m potential 2/0 carriers. When a partner of a known carrier presents two SMN1 copies, the study of both parents will provide a more accurate diagnosis, thus optimizing genetic counseling.

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Detecting novel gene mutations in Usher syndrome families by next generation sequencing technology

Detecting novel gene mutations in Usher syndrome families by...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Yan Tizhen li wugao Tang Xiangrong li Zhetao Wang lin Mo lian Huang Jiwei Yang Yan Cai Ren Tang Ning Key Laboratory of birth defects prevention and control Department of Medical Genetics Liuzhou Municipal Maternity and Child Healthcare Hospital Center of Hearing Liuzhou Municipal Maternity and Child Healthcare Hospital

Objective Usher syndrome(USH) is an autosomal recessive disorder characterized by hearing impairment and vision dysfunction due to retinitis pigmentosa. Phenotypic and genetic heterogeneities of this disease make it impractical to obtain a genetic diagnosis by conventional Sanger sequencing. Method This study explored an approach for detecting disease-causing genetic mutations in candidate genes in 25 cases from unrelated USH families based on targeted next-generation sequencing(NGS) technology. Through systematic data analysis using an established bioinformatics pipeline, all variants that passed filter criteria were validated by Sanger sequencing and co-segregation analysis. Result 44 pathogenic mutations in the USH disease genes were identified in the 25 USH families. We identified 7 novel mutations in CDH23 gene, 9 novel mutations in GPR98 gene, 2 novel mutations in MYO7 A gene, one mutations in PCDH15 gene, one mutations in USH1 C gene, and 12 novel mutations in USH2 A gene. All novel variations segregated with the disease phenotypes in their respective families and were absent from ethnically matched control individuals. Conclusion Targeted exome sequencing precisely and rapidly identified the genetic defects in 25 Chinese USH families and this technique can be applied as a routine examination for these disorders with significant clinical and genetic heterogeneity.

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Whole-exome sequencing identifies two novel MARVELD2 frame-shift mutations as a cause of autosomal recessive nonsyndromic hearing loss in a Chinese family

Whole-exome sequencing identifies two novel MARVELD2 frame-s...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Yan Tizhen Cai Ren Tang Ning li wugao li Zhetao Tang Xiangrong Luo Shiqiang Yang Yan li Jingwen Wang lin Zeng Dingyuan Key Laboratory of birth defects prevention and control Department of Medical Genetics Liuzhou Municipal Maternity and Child Healthcare Hospital Center of Hearing Liuzhou Municipal Maternity and Child Healthcare Hospital

Objective The genetic heterogeneity of hearing loss makes genetic diagnosis expensive and tim e consuming using available methods. Whole-exome sequencing has recently been introduced a s an alternative approach to identifying causative mutations in Mendelian disorders. Method To identify the hidden mutations that cause autosomal recessive nonsyndromic hearing l oss(ARNSHL), we performed whole-exome sequencing of a Chinese family with ARNSHL who w ere negative for GJB2 or SLC26 A4 mutations. Result We found two novel compound heterozygous frame-shift mutations, c.1360 del T and c.1507 del A, of MARVELD2 in the family with ARNSHL. Conclusion This is the first report of MARVELD2 frame-shift mutations in a Chinese population. We suggest that close attention should be paid to this gene when performing genetic testing of pa tients with hearing loss in China. The present results also indicate that whole-exome sequencing i s a valuable method for comprehensive medical diagnosis of a genetically heterogeneous recessi ve disease, especially in small-sized families.

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Detection of rare alpha-thalassemia by using multiplex ligation-dependent probe amplification in southwestern China

Detection of rare alpha-thalassemia by using multiplex ligat...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Cai Ren Tang Ning Huang Jiwei Yan Tizhen Luo Shiqiang li wugao li Zhetao Huang Jun li Jingwen Zhong qingyan Ya Jiaolian liuzhou Maternal and Child Health Care Hospital

Objective To identify the rare alpha-thalassemia in southwestern China. Method 25 individuals suspected of having alpha-globin alteration(s), in which no or doubtful mut ations had been found using conventional methods, were screened by reliable multiplex ligation-d ependent probe amplification(MLPA) assay. Result In 19 out of 25 patient samples, we found 15 different alpha-thalassaemia deletions, four of which were not previously described. One novel deletions leaving the alpha-globin gene cluster intact were found to cause a complete downregulation of the downstream alpha-genes. These de letions, which are not easily detected by conventional techniques, may have clinical implications d uring pregnancy ranging from mild to life threatening microcytic haemolytic anaemia in neonates. Conclusion The MLPA assay is a rapid and sensitive method for high resolution analysis of the g lobin gene clusters in the high-incidence area of thalassemia, to allow characterizing previously u nsolved α-thalassemia genotypes.

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Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Chinese Family by Targeted Exome Sequencing

Identification and Clinical Implications of Novel MYO15A Mut...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： Yan Tizhen Tang Ning li Zhetao li wugao Tang Xiangrong Wang lin Yang Yan Huang Jiwei Zheng Pei Cai Ren Zeng Dingyuan Key Laboratory of birth defects prevention and control Department of Medical Genetics Liuzhou Municipal Maternity and Child Healthcare Hospital Center of Hearing Liuzhou Municipal Maternity and Child Healthcare Hospital

Objective Autosomal recessive nonsyndromic hearing loss(ARNSHL) is a genetically heterogen eous sensorineural disorder, generally manifested with prelingual hearing loss and absence of ot her clinical manifestations. The aim of this study is to identify the pathogenic gene in a four-gener ation consanguineous Chinese family with ARNSHL. Method Two novel frame-shift mutations, c.5964+3 G>A and c.7395+1 G>A, in the myoxin XVa ge ne(MYO15 A) was identified by exome sequencing and Sanger sequencing. The compound heterozygous MYO15 A c.5964+3 G>A and c.7395+1 G>A variants co-segregated with the phenotypes in the ARNSHL family and was absent in one hund red normal controls. Result The variant was predicted to interfere with the formation of the Myosin XVa-whirlin-Eps8 c omplex at the tip of stereocilia, which is indispensable for stereocilia elongation. Our data suggest that the compound heterozygous MYO15 A c.5964+3 G>A and c.7395+1 G>A variants might be th e pathogenic mutation, and exome sequencing is a powerful molecular diagnostic strategy for AR NSHL, an extremely heterogeneous disorder. Conclusion Our findings extend the mutation spectrum of the MYO15 A gene and have important implications for genetic counseling for the family.

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Genetic analysis of congenital adrenal hyperplasia caused by mutations of the CYP21A2

Genetic analysis of congenital adrenal hyperplasia caused by...

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第十四次全国医学遗传学学术会议

作者： Huang Ji-wei Tan Jian-qiang li wugao li Zhe-tao Yan Ti-zhen Cai Ren Pan li-zhen Luo Shi-qiang li Jing-wen Tang Ning Key Laboratory of birth defects prevention and control Department of Clinical Laboratory Liuzhou Municipal Maternity and Child Healthcare Hospital Center of Prenatal diagnosis Liuzhou Municipal Maternity and Child Healthcare Hospital

Objective:To genetic analysis the CYP21A2 of seven patients with congenitaladrenal hyperplasia and their ***:Seven patients with congenital adrenal hyperplasia from six families were *** exons of CYP21A2 and gross deletions were determined by Sanger sequencing and multiplex ligation-dependent probe ***:Of the seven patients,three cases were compound heterozygotes for c.518T>A and c.293-13C>G mutations,one case was compound heterozygote for c.293-13C>G mutation and gross deletion of CYP21A2,two cases were homozygous for c.293-13C>G mutation,and one case was compound heterozygous for c.518C>G and c.737delA *** their parents were heterozygous mutation ***:c.518T>A and c.293-13C>G are the common mutations of congenital adrenal hyperplasia in *** sequencing is accurate in detecting point mutations of *** sequencing and MLPA analysis could identify both point mutation and deletions of CYP21A2.

关键词： Congenital adrenal hyperplasia CYP21A2 Point mutation Deletion

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6p22.3 deletion:report of a boy with severe intellectual disability,autism,and electroencephalographic anomalies

6p22.3 deletion:report of a boy with severe intellectual dis...

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第十四次全国医学遗传学学术会议

作者： Yan Tizhen Zeng Ting Wei Xiao-nin Ding Yan-ling li wugao li Zhetao Weo Shuo-feng Luo Shi-qiang Cai Ren Tang Ning Key Laboratory of birth defects prevention and control Department of Clinical Laboratory Liuzhou Municipal Maternity and Child Healthcare Hospital Center of Child Healthcare Liuzhou Municipal Maternity and Child Healthcare Hospital

The interstitial deletions involving the 6p22-p24 chromosomal region are characterized by variable phenotype,according to the different size of the deleted regions and the small amount of patients reported to *** clinical phenotype includes hypotonia,defects in brain,psychomotor delay,heart,kidney and eye,short neck,craniofacial malformations,as well as clinodactyly or ***,six patients carrying overlapping deletions in the 6p22.3-p24.3 region were *** presented common features of 6p deletion syndrome,but also neurological or behavioral abnormalities,including speech delay,autism spectrum disorders(ASDs),hyperactivity/ADHD,or other behavioral ***,we report a 7.62 Mb interstitial deletion in the 6p22.3 chromosomal region identified by 60-mer oligonucleotide 180K array comparative genomic hybridization(array-CGH)in a 10 years-old boy affected by severe ID,ASDs and electroencephalographic(EEG)*** analysis demonstrated that the deletion was de novo and microsatellite segregation analysis revealed that the rearrangement involved the paternal chromosome *** genes(ATXN1,DTNBP1,JARID2 and MYliP)located in the deleted 6p22.3 region are involved in the development and function of the nervous *** finding supports the contributory effect of these genes in the pathophysiology of ASDs and ***,we propose a possible involvement of DTNBP1 and/or JARID2 genes in hypotonia.

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A Chinese family with fragile X syndrome and atypical Becker muscular dystrophy

A Chinese family with fragile X syndrome and atypical Becker...

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第十四次全国医学遗传学学术会议

作者： Yan Tizhen Tan Jian-qiang Tang Ning Cai Ren Zeng Dingyuan Luo Shi-qiang Ya Jiaolian Pan lizhen li wugao li Zhetao Zhong Qingyan Key Laboratory of birth defects prevention and control Department of Clinical Laboratory Liuzhou Municipal Maternity and Child Healthcare Hospital Center of Prenatal diagnosis Liuzhou Municipal Maternity and Child Healthcare Hospital

Background:The human X chromosome carries regions prone to genomic instability:the Xq27.3 unstable region,containing the(CGG)n repeat expansion in the FMR1gene is associated with fragile X syndrome;and rearrangements in the Xp21.2 region are associated with Duchenne or Becker muscular dystrophies(DMD or BMD).Methods:The family was analyzed by polymerase chain reaction,multiplex ligation—dependent probe amplification(MLPA),PCR-CE microfluidic DNA analysis system and haplotype ***:We report on a Chinese family with two affected boys,the elder diagnosed with fragile X syndrome and atypical Duchenne or Becker muscular dystrophy,the younger with fragile X *** mother proved to be an asymptomatic carrier of the two non-contiguous mutation events,involving the FMR1gene(CGG)n repeat expansion and the DMD gene ***:To the best of our knowledge,this is the rare description of an asymptomatic carrier of two different X-linked disorders,involving severe genetic rearrangements on both long and short arms of the X *** boy with fragile X syndrome has inherited a second recombinant maternal X chromosome,this way inheriting the FMR1 expansion,originating most probably from different maternal Xes and excluding the DMD gene *** transmission of these extremely defective maternal chromosomes to the next generation involved several recombinations.

关键词： Fragile X syndrome Duchenne muscular dystrophy FMR1 gene DMD gene Chromosome aberrations

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