Research Article

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ATP7B gene; Mutation analysis; Prenatal diagnosis; Presymptomatic diagnosis; Wilson’s disease

We investigated the genetic mutations involved in Wilson’s disease to improve prenatal genetic diagnosis and presymptomatic diagnosis. The polymerase chain reaction (PCR) was used to amplify the exons and exon-intron boundaries of the ATP7B gene in 35 Wilson’s disease pedigrees. The PCR products were further analyzed by Sanger sequencing. Prenatal genetic diagnoses were performed ... more

Y.N.Zong and X. Kong
Amniocentesis; Chromosomal abnormality; Genetic counseling; Prenatal diagnosis

The aims of this study were to demonstrate the clinical and cytogenetic results of amniocentesis (AS) cases in Northeast China, to compare the incidence of different kinds of chromosomal abnormalities, and to study the association between the detection rate of chromosomal abnormalities and different indications for prenatal diagnosis. Cytogenetic analysis was performed on long-term tissue ... more

N. An; L.L. Li; R.X. Wang; J.M. Yue; R.Z. Liu
Mutation; Phenylalanine hydroxylase gene; Phenylketonuria; Prenatal diagnosis

The aim of this study is to investigate the ability to prenatally diagnose phenylketonuria (PKU) by using phenylalanine hydroxylase (PAH) gene mutation analysis combined with short tandem repeat (STR) linkage analysis in 118 fetuses from 112 Chinese families. Genomic DNA was extracted from the peripheral blood from members of 112 families and the exons and exon-intron boundaries of the ... more

N. Liu; X.D. Kong; D.H. Zhao; Q.H. Wu; X.L. Li; H.F. Guo; L.X. Cui; M. Jiang; H.R. Shi
Amniotic fluid; Chromosomes, Human; Chromosomes, Human, Pair 13; Chromosomes, Human, Pair 18; Chromosomes, Human, Pair 21; Chromosomes, Human, X; Chromosomes, Human, Y; Female; Gene frequency; Genetic variation; Humans; Iran; male; Microsatellite Repeats; Pregnancy; Prenatal diagnosis; White People

Quantitative fluorescent polymerase chain reaction (QF-PCR), in recent years, has been accepted as a rapid, high throughput, and sensitive method for prenatal diagnosis of common chromosomal aneuploidies. Since short tandem repeats (STRs) are the cornerstone of QF-PCR technique, selection of the most polymorphic STR markers is an essential step for a successful QF-PCR assay. The genetic ... more

J. Saberzadeh; M.R. Miri; M.B. Tabei; M. Dianatpour; M. Fardaei
EGFR; FISH; Metastasis; NSCLC

The aim of this study was to explore epidermal growth factor receptor (EGFR) gene amplification and its relationship with cancer invasion and metastasis in non-small cell lung cancer (NSCLC). EGFR amplification in 45 patients with NSCLC and 15 subjects with normal lung tissues was detected by fluorescence in situ hybridization. The relationship between EGFR ... more

X.F. Jia; J. Li; H.B. Zhao; J. Liu; J.J. Liu
chromosome; FISH; Multigene families

In this study, fluorescence in situ hybridization (FISH) analysis was used to determine and compare the numbers and chromosomal locations of two multigene families (rDNA and histone H3) in four Neotropical species of gomphocerine grasshoppers. FISH using the 18S rDNA probe identified a single site on the S9 chromosome of Amblytropidia sp and Cauratettix borelli, ... more

L.C. Silva-Neto; A.C.S. Bernardino; V. Loreto; R.C. Moura
Array CGH; Balanced reciprocal translocation; DiGeorge syndrome; FISH; Karyotype; Velocariofacial syndrome

Partial duplication of the long arm of chromosome 11 and the partial trisomy of 22q are uncommon karyotypic abnormalities. Here, we report the case of a 6-year-old girl who showed partial trisomy of 11q and 22q, as a result of a maternal balanced reciprocal translocation (11;22), and exhibited dysmorphic features, severe intellectual disability, brain malformations, and speech delay ... more

P.S. Zou; H.F. Li; L.S. Chen; M. Ma; X.H. Chen; D. Xue; D.H. Cao; P.S. Zou; H.F. Li; L.S. Chen; M. Ma; X.H. Chen; D. Xue; D.H. Cao
Chromosomal microarray; Complex chromosomal rearrangement; FISH; Neurodevelopmental delay; PURA syndrome

Complex chromosomal rearrangements are extremely rare in humans. Most apparently balanced complex chromosomal rearrangements are de novo; they usually are detected in phenotypically normal subjects. Nevertheless, in some cases they are found in patients with multiple congenital abnormalities and neurodevelopmental disorders, which may be due to cryptic ... more

M.E. Minzhenkova; D.A. Yurchenko; N.A. Semenova; Z.G. Markova; A.A. Tarlycheva; N.V. Shilova
DNA extraction; Fin clippings; FISH; PCR amplification; Proteinase K

Ideal DNA extraction techniques must be efficient in terms of time, labor, and costs, optimizing yield and quality of the DNA for the desired applications. We tested six DNA extraction methods: DNeasy® Blood & Tissue Kit, Cetyltrimethylammonium bromide (CTAB), Modified salting-out protocol (SA), Boiling Tissue, Proteinase K (PK) and Mini Kit Applied ... more

N.M.L. Silva; A.A. Campelo; A.R. Caetano; P. Ianella