Gene

Exome sequencing in Thai patients with familial obesity

S. Kaewsutthi, Santiprabhob, J., Phonrat, B., Tungtrongchitr, A., Lertrit, P., Tungtrongchitr, R., Kaewsutthi, S., Santiprabhob, J., Phonrat, B., Tungtrongchitr, A., Lertrit, P., and Tungtrongchitr, R., “Exome sequencing in Thai patients with familial obesity”, vol. 15, p. -, 2016.

Obesity is a major worldwide health issue, with increasing prevalence in adults and children from developed and developing countries. Obesity causes several chronic diseases, including cardiovascular and respiratory diseases, osteoarthritis, hypertension, stroke, type II diabetes, obstructive sleep apnea, and several types of cancer.

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.