Prenatal Diagnosis
First-trimester prenatal diagnosis of pyruvate kinase deficiency in an Indian family with the pyruvate kinase-Amish mutation
Authors: Kedar PS, Nampoothiri S, Sreedhar S, Ghosh K, Shimizu K, Kanno H and Colah RB
Pyruvate kinase (PK) deficiency is a rare red cell glycolytic enzymopathy. The purpose of the present investigation was to offer prenatal diagnosis for PK deficiency to a couple who had a previous child with severe enzyme deficiency and congenital non-spherocytic hemolytic anemia. PK deficiency was identified in the family by .. Read More»
- Genet. Mol. Res. 6(2):
Mutation analyses and prenatal diagnosis in families of X-linked severe combined immunodeficiency caused by IL2Rg gene novel mutation
Authors: Q.L. Bai, N. Liu, X.D. Kong, X.J. Xu and Z.H. Zhao
We investigated the feasibility of interleukin-2 receptor gamma (IL2Rg) gene based on gene mutation analysis and prenatal diagnosis of X-linked severe combined immunodeficiency (XSCID). Blood samples of patients and their parents of X-SCID (family 1) and X-SCID (family 2) were collected. IL2Rg gene sequences of the 2 families were analyzed using bi-direct.. Read More»
- Genet. Mol. Res. 14(2):
- 2015.June.9.2
- DOI:
- 10.4238/2015.June.9.2
Genetic variations of 21 STR markers on chromosomes 13, 18, 21, X, and Y in the south Iranian population
Authors: J. Saberzadeh, M.R. Miri, M.B. Tabei, M. Dianatpour and M. Fardaei
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.. Read More»
- Genet. Mol. Res. 15(4):
- gmr15049065
- DOI:
- 10.4238/gmr15049065
Prenatal diagnosis of a partial trisomy 13q (q14�qter): phenotype, cytogenetics and molecular characterization by spectral karyotyping and array comparative genomic hybridization
Authors: I.N. Machado, J.K. Heinrich, C. Campanhol, R.M. Rodrigues-Peres, F.M. Oliveira and R. Barini
Partial trisomy 13q is an uncommon chromosomal abnormality with variable phenotypic expression. We report prenatal diagnosis of partial trisomy 13q in a fetus with partial agenesis of the cerebellar vermis, partial agenesis of the corpus callosum, hydrops and polyhydramnios. G-banding karyotyping, spectral karyotyping and arra.. Read More»
- Genet. Mol. Res. 9(1):
- vol9-1gmr716
- DOI:
- 10.4238/vol9-1gmr716
Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients
Authors: F. Cal�¬, V. Chiavetta, A. Ragalmuto, M. Vinci, G. Ruggeri, P. Schinocca and V. Romano
We developed a new application of comparative multiplex dosage analysis (CMDA) for evaluation of the ataxin 2 gene. Expansions of the triplet CAG can cause spinocerebellar ataxia type 2 (SCA2), a neurodegenerative disease with an autosomal-dominant mode of inheritance. Molecular diagnosis of SCA2 is routinely based on the use of conventional PCR to detect.. Read More»
- Genet. Mol. Res. 12(2):
- 2013.April.12.4
- DOI:
- 10.4238/2013.April.12.4
Copy number imbalances detected with a BAC-based array comparative genomic hybridization platform in congenital diaphragmatic hernia fetuses
Authors: I.N. Machado, J.K. Heinrich, R. Barini and C.F.A. Peralta
Congenital diaphragmatic hernia (CDH) is a phenotypically and genetically heterogeneous disorder, with a complex inheritance pattern. Structural abnormalities of almost all chromosomes have been described in association with CDH. We made a molecular analysis through array comparative genomic hybridization (array CGH) of a grou.. Read More»
- Genet. Mol. Res. 10(1):
- vol10-1gmr1001
- DOI:
- 10.4238/vol10-1gmr1001
Isolation and analysis of cell-free fetal DNA from maternal peripheral blood in Chinese women
Authors: W.C. Yang, L. Zhu, Y.M. Qiu, B.X. Zhou, J.L. Cheng, C.L. Wei, H.C. Chen, L.Y. Li, X.D. Fu and J.J. Fu
Non-invasive prenatal diagnosis is used to detect the genetic material of the fetus by isolating the cell-free fetal DNA (cffDNA) from maternal peripheral blood. In order to establish an isolation method for cffDNA from maternal peripheral blood in Chinese women, the cffDNA was acquired with a two-step centrifugation using a QlAamp DNA Blood mini kit. The.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.22.34
- DOI:
- 10.4238/2015.December.22.34
Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration
Authors: Y.N. Zong and X.D. Kong
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. Pren.. Read More»
- Genet. Mol. Res. 14(4):
- 2015.December.28.25
- DOI:
- 10.4238/2015.December.28.25