Mutation
A novel NF1 frame-shift mutation (c.702_703delGT) in a Chinese family with neurofibromatosis type 1
Authors: S.P. Cai, N. Fan, J. Chen, Z.L. Xia, Y. Wang, X.M. Zhou, Y. Yin, T.L. Wen, Q.J. Xia, X.Y. Liu and H.Y. Wang
This study aimed to characterize the clinical features of a Chinese pedigree with neurofibromatosis type 1 (NF1) and to identify mutations in the NF1 gene. In this three-generation family containing 8 members, 5 had been diagnosed with NF1 and the others were asymptomatic. All members of the family underwent complete medical e.. Read More»
- Genet. Mol. Res. 13(3):
- 2014.July.24.19
- DOI:
- 10.4238/2014.July.24.19
Random amplified polymorphic DNA analysis of salt-tolerant tobacco mutants generated by gamma radiation
Authors: Ã?Â?. Ã?Â?elik and Ã?Â?. Atak
Salinity is one of the major problems limiting the yield of agricultural products. Radiation mutagenesis is used to improve salt-tolerant mutant plants. In this study, we aimed to improve salt-tolerant mutants of two oriental tobacco varieties. One thousand seeds of each variety (M0) were irradiated with 100, 200, 300, and 400 Gy gamma rays by Cs-137 gamm.. Read More»
- Genet. Mol. Res. 14(1):
- 2015.February.13.12
- DOI:
- 10.4238/2015.February.13.12
Risk analysis of duo parentage testing with limited STR loci
Authors: M.X. Zhang, H.M. Gao, S.Y. Han, Y. Liu, Y.L. Tian, S.H. Sun, D.J. Xiao, C.T. Li and Y.S. Wang,
The aim of this study was to evaluate whether the Goldeneye 20A system (containing 19 short tandem repeats) can avert the shortage of duo parentage tests. Among routine cases typed by the Identifiler system, we identified 42 motherless cases, 2 fatherless cases, and 34 trio cases containing 1 locus mismatch and 4 motherless ca.. Read More»
- Genet. Mol. Res. 13(1):
- http://dx.doi.org/2014.February.27.2
- DOI:
- http://dx.doi.org/10.4238/2014.February.27.2
Analysis of polymorphism based on SSCP markers in gamma-irradiated (Co60) grape (Vitis vinifera) varieties
Authors: D. DeÃ?Â?irmenci KarataÃ?Â?, B. Kunter, G. Coppola and R. Velasco
The effects of induced mutation produced by five different doses of gamma irradiation (20, 25, 30, 40, and 45 Gy) were determined using molecular approaches in Vitis vinifera cultivars, namely Thompson Seedless (Sultani Çekirdeksiz) (progenitor of seedless vinifera variety) and Kalecik KarasÃ?± (one of the best quality.. Read More»
- Genet. Mol. Res. 9(4):
- vol9-4gmr864
- DOI:
- 10.4238/vol9-4gmr864
A novel single-base deletion mutation of the RUNX2 gene in a Chinese family with cleidocranial dysplasia
Authors: C.Y. Fang, J.J Xue, L. Tan, C.H. Jiang, Q.P. Gao, D.S. Liang and L.Q. Wu
We identified a disease-causing mutation of the RUNX2 gene in a four-generation Chinese family affected with cleidocranial dysplasia (CCD). For mutation analysis, the coding region of RUNX2 was sequenced with DNA from two patients and three unaffected family members. The RUNX2 mutation was investigated in 50 normal controls by.. Read More»
- Genet. Mol. Res. 10(4):
- 2011.December.14.5
- DOI:
- 10.4238/2011.December.14.5
Establishment and rapid detection of a heterozygous missense mutation in the CACNA1F gene by ARMS technique with double-base mismatched primers
Authors: W.C. Yang, L. Zhu, B.X. Zhou, S. Tania, Q. Zhou, M.A. Khan,X.L. Fu, J.L. Cheng, H.B. Lv and J.J. Fu
Retinitis pigmentosa (RP) is a retinal degenerative disorder that often causes complete blindness. Mutations of more than 50 genes have been identified as associated with RP, including the CACNA1F gene. In a recent study, by employing next-generation sequencing, we identified a novel mutation in the CACNA1F gene. In this study, we used the amplification r.. Read More»
- Genet. Mol. Res. 14(3):
- http://dx.doi.org/2015.September.25.14
- DOI:
- http://dx.doi.org/10.4238/2015.September.25.14
Correlation between the BRAF V600E mutation status and the clinicopathologic features of papillary thyroid carcinoma
Authors: C.L. Shi, Y. Sun, C. Ding, Y.C. Lv and H.D. Qin
This study sought to investigate the correlations of V-raf murine sarcoma viral oncogene homolog B1 (BRAF) gene mutations with the clinicopathologic features of papillary thyroid carcinoma and central lymph node metastasis. We retrospectively analyzed the 2-year medical records of patients who underwent surgery for papillary thyroid carcinoma. After scree.. Read More»
- Genet. Mol. Res. 14(3):
- 2015.July.3.13
- DOI:
- 10.4238/2015.July.3.13
Back fat thickness and meat tenderness are associated with a 526 T�A mutation in the exon 1 promoter region of the MyF-5 gene in Chinese Bos taurus
Authors: J.A. Ujan, L.S. Zan, S.A. Ujan, C. Adoligbe and H.B. Wang
Qualitative trait loci (QTL) for growth and meat quality traits in cattle (Bos taurus) have been previously mapped to three chromosome regions, 0 to 30, 55 to 70, and 70 to 80 cM on chromosome 5. We evaluated the allele frequencies and gene-specific single nucleotide polymorphisms (SNPs) of bovine myogenic factor 5 (MyF-5) in .. Read More»
- Genet. Mol. Res. 10(4):
- 2011.December.12.6
- DOI:
- 10.4238/2011.December.12.6
A novel mutation in DAX1 gene causing different phenotypes in three siblings with adrenal hypoplasia congenita
Authors: Calliari LEP, Longui CA, Rocha MN, Faria CDC, Kochi C, Melo MR, Melo MB and Monte O
Adrenal hypoplasia congenita (AHC) is a rare disease that can be caused by many abnormalities, including an X-linked form. Mutations in the DAX1 gene have been assigned as the genetic cause of AHC. We describe here three siblings with AHC, clinically presented at different ages, two in the neonatal period and one oligosymptoma.. Read More»
- Genet. Mol. Res. 6(2):
Pedigrees of infertile Chinese men with Y chromosome microdeletions derived from natural transmission and de novo mutation
Authors: L.L. Li, Y.Z. Zhu, X.W. Yu, R.X. Wang, Z.M. Hu and R.Z. Liu
Y chromosome microdeletions can cause male infertility and are classified as natural transmission and de novo mutations. To examine the source of these deletions in Chinese men and to provide a theoretical and laboratory basis for genetic counseling, patients from Northeast China with primary male infertility (N = 22) and their fathers were investigated. .. Read More»
- Genet. Mol. Res. 14(1):
- 2015.March.20.3
- DOI:
- 10.4238/2015.March.20.3