| 1 | A New Theoretical Model for Pricing Telecommunications Services显示文摘The main methods of pricing telecommunications services can be summarized in two kinds: one is based on average cost, the other, on marginal cost. In order to combine the advantages of these two methods and overcome their disadvantages, this paper proposes a new theoretical model for pricing telecommunications services, the so-called comprehensive evaluation model, to evaluate the pricing methods. | ZHANG Wei, LIANG Xiong-jian (College of Management and Humanities, Beijing University of Posts and Telecommunications, Beijing 100876, P. R. China) | 2000 | The Journal of China Universities of Posts and Telecommunications2000，7，1： | 3 |
| 3 | The genetic load for hereditary hearing impairment in Chinese population and its clinical implication显示文摘Objective To understand the genetic load in the Chinese population for improvement in diagnosis, prevention and rehabilitation of deafness. Methods DNA samples, immortalized cell lines as well as detailed clinical and audiometric data were collected through a national genetic resources collecting network. Two conventional genetic approaches were used in the studies. Linkage analysis in X chromosome and autosomes with microsatellite markers were performed in large families for gene mapping and positional cloning of novel genes. Candidate gene approach was used for screening the mtDNA 12SrRNA, GJB2 and SLC26A4 mutations in population -based samples. Results A total of 2,572 Chinese hearing loss families or sporadic cases were characterized in the reported studies, including seven X-linked, one Y-linked, 28 large and multiplex autosomal dominant hearing loss families, 607 simplex autosomal recessive hereditary hearing loss families, 100 mitochondrial inheritance families, 147 GJB2 induced hearing loss cases, 230 cases with enlarged vestibular aqueduct (EVA) syndrome, 169 sporadic cases with auditory neuropathy, and 1,283 sporadic sensorineural hearing loss cases. Through linkage analysis or sequence analysis, two X-linked families were found transmitting two novel mutations in the POU3F4 gene, while another X -linked family was mapped onto a novel locus, nominated as AUNX1 (auditory neuropathy, X-linked locus 1). The only Y-linked family was mapped onto the DFNY1 locus(Y-linked locus 1, DFNY1). Eight of the 28 autosomal dominant families were linked to various autosomal loci. In population genetics studies, 2,567 familial cases and sporadic patients were subjected to mutation screening for three common hearing loss genes: mtDNA 12S rRNA 1555G, GJB2 and SLC26A4. The auditory neuropathy cases in our samples were screened for OTOF gene mutations. Conclusions These data show that the Chinese population has a genetic load on hereditary hearing loss. Establishing personalized surveillance and prevention models for hearing loss based on genetic research will provide the opportunity to decrease the prevalence of deafness in the Chinese population. | WANG Qiu-ju 1,2, RAO Shao-qi 1, 3, GUO Yu-fen 4, LI Qing-zhong 5, ZHAO Hui 1, ZHAO Li-dong 1, YUAN Hu 1, ZONG Liang 1, LIU Qiong 1, ZHAO Ya-li 6, WANG Da-yong 1, HAN Ming-kun 1, JI Yu-bin 1, LI Jian-qiang 1, LAN Lan 1, YANG Wei-yan 1, SHEN Yan 2,6, HAN Dong-yi 1 1 Department of Otorhinolaryngology-Head and Neck Surgery, and Institute of Otolaryngology, Chinese People’s Liberation Army General Hospital, Beijing, 100853 China 2 Chinese National Human Genome Center, Beijing, 100176 China 3 Department of Medical Statistics and Epidemiology, School of Public Health, Sun Yat-Sen University, Guangzhou, 510080, China 4 Department of Otorhinolaryngology, Head and Neck Surgery, Second Hospital of Lanzhou University, Lanzhou 730030, China 5 Department of Otolaryngology, EYE & ENT hospital of Fudan University, Shanghai, 200031,China 6 Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100005 China | 2009 | Journal of Otology2009，4，2： | 1 |
| 4 | A rare polymorphism of the COX7B2 gene in a Cantonese family with nasopharyngeal carcinoma显示文摘Nasopharyngeal carcinoma (NPC) is the most common head and neck cancer in southern China, and the genetic susceptibility is believed to play an important role in the aetiol-ogy of this malignancy. In our previous studies, one candidate susceptibility locus has been mapped to chromosome 4p11-p14 in a subset of NPC families. In the present study, we screened the cytochrome oxidase VIIb2 (COX7B2) gene which resides in this region and investigated the relationship of single nucleotide polymorphisms (SNPs) of this gene with these familial NPC pa-tients. We identified five novel SNPs in this gene, among them -158101G>T and -157322G>A in promoter region, -109602A>G in intron 2, 78T>A in exon 3, and 354T>A in 3?untranslational region. The change 78T>A at codon 26 which leads to CAT26CAA (His26Gln) was shared by patients from family 31 that carried the susceptibility haplotype, but not found in cases from other NPC families nor in sporadic cases. However, the frequency of allele A was relatively low in normal controls both from Guangdong and eastern China (0.45% and 0.26%, respectively), and this variant was not found in pooled DNA samples from the white and the black population. Pro-tein sequence alignment showed that the 26His of COX7B2 protein is consistent among different species. Our results suggested that the codon 26 of COX7B2 gene might be conservative during the process of evolution, and the rare variation His26Gln was probably associated with the high risk in NPC pedigree 31. | LIANG Hui1, CHEN Hankui1, SHEN Yayun2, FENG Qisheng1, JIN Wei2, HUANG Wei2 & ZENG Yixin1 1. Cancer Center, Sun Yat-sen University, Guangzhou 510060, China 2. Chinese National Human Genome Center at Shanghai, Shanghai 201203, China | 2004 | Science China(Life Sciences)2004，47，5： | 0 |
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