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1.
J Gene Med ; 19(4)2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28220983

RESUMO

BACKGROUND: Little information is available regarding the penetrance of 1q21.1 copy number variants (CNVs). In the present study, we explored the clinical significance of 1q21.1 microdeletion or microduplication. METHODS: In four families, chromosome karyotype was analyzed using G-banding karyotype analysis technology. CNVs were detected using array-comparative genomic hybridization (aCGH) and then a quantitative polymerase chain reaction (qPCR) was used to validate candidate CNVs. Sequence signature in the breakpoint region was analyzed using University of California Santa Cruz (UCSC) databases. RESULTS: Except for karyotype 45, XX, der (13, 14) (q10, q10) in the mother (I2) of family 2, the karyotype was normal in all other members of the four families. In the mother (I2) and fetus (II2) of family 1, in newborn (II1) of family 2 and in fetus (II1) of family 3, there was 1.22-Mb heterozygous microdeletion in the chromosome 1q21.1q21.2 region. The child (II1) of family 4 had a 1.46-Mb heterozygous microduplication in the chromosome 1q21.1q21.2 region. The results of the qPCR were consistent with that of aCGH. There was large number of low copy repeats (LCRs) in the breakpoint region found by analysis of the UCSC database, and multiple LCRs were matched with sequences in the chromosome 1 short-arm region. CONCLUSIONS: 1q21.1 microdeletion and microduplication exhibit a variety of clinical manifestations and the specificity of their clinical features is not high. The penetrance of the distal 1q21.1 microdeletion may be affected by other factors in the present study. In summary, we report the discovery of a new distal 1q21.1 microduplication, which enriches the CNV spectrum in the 1q21.1 region and is conducive to prenatal genetic counseling.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Duplicação Cromossômica , Estudos de Associação Genética , Megalencefalia/diagnóstico , Megalencefalia/genética , Fenótipo , Adolescente , Adulto , Criança , Pré-Escolar , Bandeamento Cromossômico , Deleção Cromossômica , Cromossomos Humanos Par 1/genética , Hibridização Genômica Comparativa , Análise Citogenética , Variações do Número de Cópias de DNA , Feminino , Heterozigoto , Humanos , Lactente , Masculino , Linhagem , Penetrância , Ultrassonografia Pré-Natal , Adulto Jovem
2.
Oncotarget ; 8(63): 106976-106988, 2017 Dec 05.
Artigo em Inglês | MEDLINE | ID: mdl-29291004

RESUMO

Background: Tetralogy of Fallot is the most common cyanotic congenital heart disease. However, its pathogenesis remains to be clarified. The purpose of this study was to identify the genetic variants in Tetralogy of Fallot by whole exome sequencing. Methods: Whole exome sequencing was performed among eight small families with Tetralogy of Fallot. Differential single nucleotide polymorphisms and small InDels were found by alignment within families and between families and then were verified by Sanger sequencing. Tetralogy of Fallot-related genes were determined by analysis using Gene Ontology /pathway, Online Mendelian Inheritance in Man, PubMed and other databases. Results: A total of sixteen differential single nucleotide polymorphisms loci and eight differential small InDels were discovered. The sixteen differential single nucleotide polymorphisms loci were located on Chr 1, 2, 4, 5, 11, 12, 15, 22 and X. Among the sixteen single nucleotide polymorphisms loci, six has not been reported. The eight differential small InDels were located on Chr 2, 4, 9, 12, 17, 19 and X, whereas of the eight differential small InDels, two has not been reported. Analysis using Gene Ontology /pathway, Online Mendelian Inheritance in Man, PubMed and other databases revealed that PEX5, NACA, ATXN2, CELA1, PCDHB4 and CTBP1 were associated with Tetralogy of Fallot. Conclusions: Our findings identify PEX5, NACA, ATXN2, CELA1, PCDHB4 and CTBP1 mutations as underlying genetic causes of isolated tetralogy of Fallot.

3.
Medicine (Baltimore) ; 95(49): e5552, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-27930557

RESUMO

To explore the underlying pathogenesis and provide references for genetic counseling and prenatal gene diagnosis, we analyzed the chromosome karyotypes and genome-wide copy number variations (CNVs) in 86 patients with tetralogy of Fallot (TOF) by G-banding karyotype analysis and array-comparative genomic hybridization (aCGH), respectively. And then quantitative polymerase chain reaction was used to validate these candidate CNVs. Based on their different properties, CNVs were categorized into benign CNVs, suspiciously pathogenic CNVs, and indefinite CNVs. Data analysis was based on public databases such as UCSC, DECIPHER, DGV, ISCA, and OMIM.The karyotype was normal in all the 86 patients with TOF. CNVs were detected in 11 patients by aCGH and quantitative polymerase chain reaction. Patient no. 0001, 0010, and 0029 had 2.52-Mb deletion in the chromosome 22q11.21 region; patient no. 0008 had both 595- and 428-kb duplications, respectively, in 12p12.3p12.2 and 14q23.2q23.3 regions; patient no. 0009 had 1.46-Mb duplication in the 1q21.1q21.2 region; patient no. 0016 had 513-kb duplication in the 1q42.13 region; patient no. 0024 had 292-kb duplication in the 16q11.2 region; patient no. 0026 had 270-kb duplication in the 16q24.1 region; patient no. 0028 had 222-kb deletion in the 7q31.1 region; patient no. 0033 had 1.73-Mb duplication in the 17q12 region; and patient no. 0061 had 5.79-Mb deletion in the 1p36.33p36.31 region.aCGH can accurately detect CNVs in the patients with TOF. This is conducive to genetic counseling and prenatal diagnosis for TOF and provides a new clue and theoretical basis for exploring the pathogenesis of congenital heart disease.


Assuntos
Hibridização Genômica Comparativa , Tetralogia de Fallot/genética , Adolescente , Adulto , Criança , Pré-Escolar , Variações do Número de Cópias de DNA , Primers do DNA , Feminino , Humanos , Lactente , Masculino , Reação em Cadeia da Polimerase , Adulto Jovem
4.
J Ultrasound Med ; 33(12): 2125-9, 2014 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25425368

RESUMO

OBJECTIVES: To explore the application of instantaneous wave intensity for early diagnosis of systemic lupus erythematosus (SLE)-induced atherosclerosis, we observed carotid elasticity by instantaneous wave intensity in premenopausal women with SLE. METHODS: The study included 3 groups (each group with 30 participants): SLE1 (course of disease <5 years), SLE2 (course of disease ≥5 years) and healthy control. Carotid parameters, including instantaneous acceleration wave intensity, instantaneous deceleration wave intensity, negative area, stiffness constant, wave intensity pulse wave velocity, stiffness constant pulse wave velocity, pressure strain elastic modulus, arterial compliance, augmentation index, and intima-media thickness, were measured. RESULTS: Compared with the control group, the instantaneous deceleration wave intensity, stiffness constant, pressure strain elastic modulus, wave intensity pulse wave velocity, and stiffness constant pulse wave velocity were significantly increased but the arterial compliance was significantly decreased in the SLE1 and SLE2 groups (all P ≤ .01). The instantaneous acceleration wave intensity, augmentation index, and negative area tended to increase in all 3 groups, but there were no statistical differences among the groups. The instantaneous deceleration wave intensity, stiffness constant, pressure strain elastic modulus, wave intensity pulse wave velocity, and stiffness constant pulse wave velocity were significantly higher in the SLE2 group than the SLE1 group, but the arterial compliance was significantly lower in the SLE2 group than the SLE1 group (all P ≤ .01). CONCLUSIONS: Instantaneous wave intensity can be used to evaluate carotid elasticity in the patients with SLE, which is important for early prevention and treatment of cardiovascular disease.


Assuntos
Artérias Carótidas/diagnóstico por imagem , Artérias Carótidas/fisiopatologia , Doenças das Artérias Carótidas/diagnóstico por imagem , Doenças das Artérias Carótidas/fisiopatologia , Técnicas de Imagem por Elasticidade/métodos , Lúpus Eritematoso Sistêmico/diagnóstico por imagem , Lúpus Eritematoso Sistêmico/fisiopatologia , Adolescente , Adulto , Doenças das Artérias Carótidas/etiologia , Espessura Intima-Media Carotídea , Diagnóstico Precoce , Módulo de Elasticidade , Feminino , Humanos , Aumento da Imagem/métodos , Interpretação de Imagem Assistida por Computador/métodos , Lúpus Eritematoso Sistêmico/complicações , Masculino , Projetos Piloto , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Rigidez Vascular , Adulto Jovem
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