All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.
Plant Genetics   Research Article

Genetic dissimilarity and selection of putative mutants of Terra Maranhão plantain cultivar using the Ward-MLM strategy

Authors: R.V. Reis, E.P. Amorim, V.B.O. Amorim, C.F. Ferreira, R.K.N. Pestana, C.A.S. Ledo, Z. Gonçalves and A. Borém

The objective of this study was to evaluate genetic variability and select putative mutants of Terra Maranhão plantain cultivar (AAB genome) subjected to gamma radiation based on agronomic data and inter simple sequence repeat molecular marker profiles using the Ward-MLM strategy. A total of 233 irradiated plants and 41.. Read More»

Genet. Mol. Res. 14(4):
2015.November.30.11
DOI:
10.4238/2015.November.30.11
Human Genetics   Research Article

Pyridoxal 5ꞌ-phosphate-responsive epilepsy with novel mutations in the PNPO gene: a case report

Authors: M. Veeravigrom1,2, P. Damrongphol1,2, R. Ittiwut3,4, C. Ittiwut3,4,K. Suphapeetiporn3,4 and V. Shotelersuk3,4

Pyridoxal 5'-phosphate (PLP)-responsive epilepsy is a rare autosomal recessive epileptic disorder caused by deficiency of pyridox(am)-ne 5'-phosphate oxidase (PNPO). Neonatal onset seizures in PLP responsive epilepsy are usually resistant to common anticonvulsants and pyridoxine, but respond to PLP. Various PNPO mutations are associated with this disorder.. Read More»

Genet. Mol. Res. 14(4):
2015.October.29.34
DOI:
10.4238/2015.October.29.34
Human Genetics   Research Article

Prenatal diagnosis of Chinese families with phenylketonuria

Authors: N. Liu1, X.D. Kong1, D.H. Zhao2, Q.H. Wu1, X.L. Li2, H.F. Guo4, L.X. Cui4,M. Jiang1 and H.R. Shi3

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 an.. Read More»

Genet. Mol. Res. 14(4):
2015.November.18.25
DOI:
10.4238/2015.November.18.25
Human Genetics   Research Article

Mutation analysis of four Chinese families with pure hereditary spastic paraplegia: pseudo- X-linked dominant inheritance and male lethality due to a novel ATL1 mutation

Authors: N. Zhao, Y. Sui, X.F. Li, W. Liu, Y.P. Lu, W.H. Feng, C. Ma, Y.W. Wang, H.X. Bao, F. Huang, H. Wang, D.X. Yi, W.T. Han and M. Jiang

We studied four Chinese families with pure hereditary spastic paraplegia (HSP) to investigate the clinical features and associated genetic mutations. Linkage analysis was performed for all families to map the disease locus onto autosomal chromosomes, and related loci involved in HSP on the X chromosome were also examined. Polymerase chain reaction (PCR) s.. Read More»

Genet. Mol. Res. 14(4):
2015.November.18.33
DOI:
10.4238/2015.November.18.33
Human Genetics   Research Article

Detection of Y chromosome microdeletions and mitochondrial DNA mutations in male infertility patients

Authors: A.I. Güney, D. Javadova, D. Kırac, K. Ulucan, G. Koc, D. Ergec, H. Tavukcu and T. Tarcan

Infertility affects about 10-15% of all couples attempting pregnancy with infertility attributed to the male partner in approximately half of the cases. Proposed causes of male infertility include sperm motility disturbances, Y chromosome microdeletions, chromosomal abnormalities, single gene mutations, and sperm mitochondrial.. Read More»

Genet. Mol. Res. 11(2):
2012.April.27.2
DOI:
10.4238/2012.April.27.2
Human Genetics   Research Article

MEF2A gene mutations and susceptibility to coronary artery disease in the Chinese population

Authors: J. Li1, H.-X. Chen2, J.-G. Yang3, W. Li3, R. Du3 and L. Tian3

We investigated mutations and polymorphisms of the coronary artery disease (CAD)-related myocyte enhancer factor 2A (MEF2A) gene in a Chinese population. Polymerase chain reaction-single-strand conformation polymorphism and DNA sequencing were used to detect exon 11 of the MEF2A gene in 210 Hubei patients with CAD and 190 healthy controls... Read More»

Genet. Mol. Res. 13(4):
/2014.October.20.15
DOI:
/10.4238/2014.October.20.15
Human Genetics   Research Article

Mutational analysis of BRCA1/2 gene and pathologic characteristics from Kazakh population with sporadic breast cancer in northwestern China

Authors: S.Y. Yang, D. Aisimutula, H.F. Li, Y. Hu, X. Du, J. Li and M.X. Luan

Mutations in the BRCA1/2 genes are associated with an increased risk of breast cancer, but no large-scale research have examined the BRCA1/2 mutations in Chinese Kazakh women. We evaluated the frequency and distributions of BRCA1 and BRCA2 gene mutations in Kazakh sporadic breast cancer patients and healthy women in China. The association between the clin.. Read More»

Genet. Mol. Res. 14(4):
2015.October.26.11
DOI:
10.4238/2015.October.26.11
Human Genetics   Research Article

A rare PAX6 mutation in a Chinese family with congenital aniridia

Authors: F. He, D.L. Liu, M.P. Chen, L. Liu, L. Lu, M. Ouyang, J. Yang, R. Gan and X.Y. Liu

Aniridia is an autosomal dominant disorder characterized by the complete or partial loss of the iris and is almost associated with mutations in the paired box gene 6 (PAX6). We examined three generations of a Chinese family with congenital aniridia and observed genetic defects. Exons of PAX6 from 12 family members were amplified by polymerase chain reacti.. Read More»

Genet. Mol. Res. 14(4):
2015.October.26.29
DOI:
10.4238/2015.October.26.29
Human Genetics   Research Article

Frequency of the S65C mutation in the hemochromatosis gene in Brazil

Authors: V.C. Oliveira1,2, F.A. Caxito1, K.B. Gomes3 , A.M. Castro1,V.C. Pardini1 and A.C.S. Ferreira1,2

Development of hereditary hemochromatosis is asso­ciated with the C282Y, H63D or S65C mutations in the hemochro­matosis gene. Though there is extensive knowledge about the former two, there is little information on the mechanism of action and the allelic frequency of the S65C mutation. We examined the prevalence of the S65C mutation of the hemochr.. Read More»

Genet. Mol. Res. 8(3):
vol8-3gmr562
DOI:
10.4238/vol8-3gmr562
Human Genetics   Research Article

A novel NF1 mutation in a Chinese patient with giant café-au-lait macule in neurofibromatosis type 1 associated with a malignant peripheral nerve sheath tumor and bone abnormality

Authors: H.-X. Tong M. Li Y. Zhang J. Zhu W.-Q. Lu

Neurofibromatosis type 1 (NF1; OMIM#162200) is a common neurocutaneous disorder that is characterized by multiple café-au-lait, skinfold freckling, Lisch nodules, and neurofibromas. Mutations in the NF1 gene, which encodes the neurofibromin protein, have been identified as the pathogenic gene of NF1. In this study, we present a clinical and molecul.. Read More»

Genet. Mol. Res. 11(3):
2012.July.10.6
DOI:
10.4238/2012.July.10.6