Research Article

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Bone abnormality; Multiple café-au-lait spots; Mutation analysis; Neurofibromatosis type 1; NF1 gene; Tumor

Neurofibromatosis type 1, also known as NF1 or von Recklinghausen’s disease, is a common neurocutaneous syndrome that presents with multiple café-au-lait patches, skinfold freckling, dermatofibromas, neurofibromas, and Lisch nodules. The mutations of the gene NF1, encoding the protein neurofibromin, have been identified as the cause of this disease. Here, we report a clinical and ... more

S.Y. Su; X. Zhou; X.M. Pang; C.Y. Chen; S.H. Li; J.L. Liu; S.Y. Su; X. Zhou; X.M. Pang; C.Y. Chen; S.H. Li; J.L. Liu; S.Y. Su; X. Zhou; X.M. Pang; C.Y. Chen; S.H. Li; J.L. Liu
12/02/2015
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
11/19/2015
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
12/19/2016
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
02/20/2018
Array-SNP; FISH; Prenatal diagnosis; Trisomy 7q11.23q21.3; VSD

The objective of prenatal diagnosis (PD) is to provide prenatal diagnostic testing services for genetic conditions that enable families to make informed choices consistent with their individual needs and values, and to support them in deal with the outcome of such testing. This case we reported is about two fetuses with ventricular septal defect (VSD) and trisomy ... more

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09/23/2016
ATP7B; Genetic mutation; Impaired copper metabolism; Wilson’s disease

Copper-transporting P-type adenosine triphosphatase (ATP7B) has been identified as the pathogenic gene in hepatolenticular degeneration, or Wilson’s disease (WD). The aim of this study was to explore the correlation between genetic mutations and the clinical profile of WD, and to discuss the value of mutation examination in its diagnosis for providing a scientific basis for the ... more

D.F. Zhang; J.F. Teng; D.F. Zhang; J.F. Teng
06/17/2016
Angelman syndrome; Arcuate fasciculus; Diagnosis; Language; Mutation analysis

Angelman syndrome (AS) is a neurogenetic disorder caused by a defect in the expression of the maternally inherited ubiquitin protein ligase E3A (UBE3A) gene in chromosome 15. The most common genetic defects include maternal deletions in chromosome 15q11-13; however, paternal uniparental disomy and imprinting defects allow for the identification of mutations in UBE3A in ... more

K. Wang; Y.T. Li; M. Hou; K. Wang; Y.T. Li; M. Hou