Sequencing

Recent progress in identification and characterization of loci associated with sex-linked congenital cataract

D. D. Zhang, Du, J. Z., Topolewski, J., Wang, X. M., Zhang, D. D., Du, J. Z., Topolewski, J., and Wang, X. M., Recent progress in identification and characterization of loci associated with sex-linked congenital cataract, vol. 15. p. -, 2016.

Congenital cataract is a common cause of blindness in children; however, its pathogenesis remains unclear. Genetic factors have been shown to play an important role in the pathogenesis of congenital cataract. The current genetic models of congenital cataract include autosomal dominant, autosomal recessive, and sex-linked inheritance. Sex-linked congenital cataract could be inherited through the X or Y chromosome.

Lack of association between rare mutations of the SIAE gene and rheumatoid arthritis in a Han Chinese population

D. D. Zhang, He, F., Liu, H. T., Hao, F., and Zhu, J., Lack of association between rare mutations of the SIAE gene and rheumatoid arthritis in a Han Chinese population, vol. 14, pp. 14162-14168, 2015.

The function of rare genotypes encoding defective variants of sialic acid acetylesterase (SIAE) in some autoimmune diseases, including rheumatoid arthritis (RA), is ambiguous. We determined whether mutations in the SIAE gene are responsible for RA in a Han Chinese population.DNA was prepared from the venous leukocytes of 444 RA patients and 647 normal controls. The coding regions and adjacent intron sequences of SIAE were amplified by polymerase chain reaction. The products were then subjected to sequencing analysis.

Analysis of an “off-ladder” allele at the Penta D short tandem repeat locus

Y. L. Yang, Wang, J. G., Wang, D. X., Zhang, W. Y., Liu, X. J., Cao, J., and Yang, S. L., Analysis of an “off-ladder” allele at the Penta D short tandem repeat locus, vol. 14, pp. 15096-15101, 2015.

Kinship testing of a father and his son from Guangxi, China, the location of the Zhuang minority people, was performed using the PowerPlex® 18D System with a short tandem repeat typing kit. The results indicated that both the father and his son had an off-ladder allele at the Penta D locus, with a genetic size larger than that of the maximal standard allelic ladder. To further identify this locus, monogenic amplification, gene cloning, and genetic sequencing were performed.

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