Mutation

Phenotypic and biochemical profile changes in calendula (Calendula officinalis L.) plants treated with two chemical mutagenesis

Y. I. El-Nashar, Asrar, A. A., El-Nashar, Y. I., and Asrar, A. A., “Phenotypic and biochemical profile changes in calendula (Calendula officinalis L.) plants treated with two chemical mutagenesis”, vol. 15, p. -, 2016.

Chemical mutagenesis is an efficient tool used in mutation-breeding programs to improve the vital characters of the floricultural crops. This study aimed to estimate the effects of different concentrations of two chemical mutagens; sodium azide (SA) and diethyl sulfate (DES). The vegetative growth and flowering characteristics in two generations (M1 and M2) of calendula plants were investigated.

Molecular characterization of a Han Chinese family with essential hypertension

J. F. Zhu, Zhang, X., Ling, L., Zhu, J. F., Zhang, X., and Ling, L., “Molecular characterization of a Han Chinese family with essential hypertension”, vol. 15, p. -, 2016.

Mutations in the mitochondrial genome have been found to be associated with essential hypertension. Here, we report the clinical and molecular characterization of a three-generation Han Chinese family with maternally inherited hypertension. Most strikingly, this pedigree exhibited a high penetrance of hypertension. Sequence analysis of the mitochondrial genome showed the presence of a homoplasmic T16189C mutation in the D-loop and the intergenic CO2/tRNALys 9-bp common deletion, as well as a set of polymorphisms belonging to the East Asia haplogroup B5b1.

Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa

M. F. Haddad, Khabour, O. F., Abuzaideh, K. A. Y., Shihadeh, W., Haddad, M. F., Khabour, O. F., Abuzaideh, K. A. Y., and Shihadeh, W., “Screening for mutations in RPGR and RP2 genes in Jordanian families with X-linked retinitis pigmentosa”, vol. 15, p. -, 2016.

Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous disease causing progressive degeneration of retinal photoreceptor cells. X-linked RP (XLRP), in which photoreceptor degeneration begins in early childhood and complete blindness often occurs by the fourth decade of life, constitutes the most severe form of this disease. Two genes commonly associated with XLRP have previously been cloned: retinitis pigmentosa GTPase regulator (RPGR) and retinitis pigmentosa 2 (RP2).

Splicing mutation of a gene within the Duchenne muscular dystrophy family

Y. B. Zhu, Gan, J. H., Luo, J. W., Zheng, X. Y., Wei, S. C., Hu, D., Zhu, Y. B., Gan, J. H., Luo, J. W., Zheng, X. Y., Wei, S. C., and Hu, D., “Splicing mutation of a gene within the Duchenne muscular dystrophy family”, vol. 15, p. -, 2016.

The aim of this study was to identify the mutation site and phenotype of the Duchenne muscular dystrophy (DMD) gene in a DMD family. The DMD gene is by far the largest known gene in humans. Up to 34% of the point mutations reported to date affect splice sites of the DMD gene. However, no hotspot mutation has been reported. Capture sequencing of second-generation exons was used to investigate the DMD gene in a proband. Sanger sequencing was performed for mutation scanning in eight family members.

Mutagenic influences of colchicine on phenological and molecular diversity of Calendula officinalis L.

Y. I. El-Nashar, Ammar, M. H., El-Nashar, Y. I., Ammar, M. H., El-Nashar, Y. I., and Ammar, M. H., “Mutagenic influences of colchicine on phenological and molecular diversity of Calendula officinalis L.”, vol. 15, p. -, 2016.

Six different colchicine concentrations: 0, 400, 800, 1200, 1600, and 2000 ppm, in combination with four soaking time treatments (1, 2, 3, and 4 h), were selected to assess the effects on germination, vegetative growth, and flower yield components in calendula plants. The molecular diversity among the treatments was assessed using ten SRAP marker combinations. Seed soaking in colchicine significantly enhanced both the fresh and the dry shoot and root masses, flowering date, number of flowers per plant, and flower diameter.

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