A novel mutation combining with rs66612022 in a Chinese pedigree suggests a new pathogenesis to osteogenesis imperfecta via whole genome sequencing
ANNALS OF HUMAN GENETICS
Authors: Li, Yanjiao; Liang, Hongsuo; Yuan, Dekai; Liu, Baoling; Liu, Ling; Zhang, Yongfa; Hou, Kaiyu; Zhang, Yunchao; Chen, Bin; Ding, Jing; Li, Yunxia; Wang, Qilin; Wu, Haiying; Shi, Hong; Hu, Min
Abstract
Osteogenesis imperfecta (OI) is a rare heritable disease with systemic connective tissue disorder. Most of the patients represent autosomal dominant form of OI, and are usually resulting from the mutations in type I collagen genes. However, the gene mutations reported previously only account for similar to 70% of the OI cases. Here, in a Chinese OI family, we examined seven patients and nine normal individuals using the whole genome sequencing and molecular genetic analysis. The mutation of rs66612022 (COL1A2:p.Gly328Ser) related to glycine substitution was found in the seven patients. Moreover, we identified a novel missense mutation (HMMR:p.Glu2Gln). Interestingly, the individuals of this family with both the mutations were suffering from OI, while the others carried one or none of them are normal. The mutations of COL1A2 and HMMR and their combined effect on OI would further expand the genetic spectrum of OI.
Hotel managed marine reserves: A willingness to pay survey
OCEAN & COASTAL MANAGEMENT
Authors: Svensson, Patrik; Rodwell, Lynda D.; Attrill, Martin J.
Abstract
The 2003 Marine Parks Congress recommended networks of marine reserves to be established covering 20-30% of habitats by 2012. Most marine reserves are, however, failing to meet their objectives, the main reason being attributed to lack of funding. In light of the growing need for effectively managed marine reserves, a survey ascertaining tourists' support and willingness to pay extra to stay at reserves managed by the private sector - Hotel Managed Marine Reserves (HMMRs) was conducted at Whale Island Resort, Vietnam. A total of 97.5% support HMMR, 86.3% were willing to pay, the median amounting to US$9.6/room/night, or 10% of the average room rate, equaling US$67,277 at 60% occupancy. (C) 2008 Elsevier Ltd. All rights reserved.