Mutations in GJB2 gene are the most frequently found mutations in patients with nonsyndromic hearing impairment. However, the spectrum and prevalence of mutations in this gene vary among different ethnic groups. In Ch...Mutations in GJB2 gene are the most frequently found mutations in patients with nonsyndromic hearing impairment. However, the spectrum and prevalence of mutations in this gene vary among different ethnic groups. In China, 30,000 infants are born with congenital hearing impairment annually. In order to provide appropriate genetic testing and counseling to the families, we investigated the molecular etiology of nonsyndromic deafness in 103 unrelated school children attending Nantong School for the Deaf and Mute in Jiangsu Province, China. The coding exon of the GJB2 gene was PCR amplified and sequenced. Sixty two GJB2 mutant alleles were identified in 35.9% (37/103) of the patients. Twenty five patients carried two pathogenic mutations and 12 patients carried one mutant allele. The 235delC was the most common mutation accounting for 69.4% (43/62) of GJB2 mutant alleles. The GJB2 mutant alleles accounted for 30.1% (62/206) of all chromosomes responsible for nonsyndromic hearing impairment. Testing of the 3 most prevalent deleterious frame shift mutations in this cohort detected 100% of all GJB2 mutant alleles. These results demonstrate that an effective genetic testing of GJB2 gene for patients and families with nonsyndromic hearing impairment is possible.展开更多
In the last decades, there has been substantial development in modeling techniques of travel demand estimation. For low population areas the external trip estimation is important but usually neglected in travel demand...In the last decades, there has been substantial development in modeling techniques of travel demand estimation. For low population areas the external trip estimation is important but usually neglected in travel demand modeling process. In Egypt, the researches in this field are scarce due to lack of data. Accordingly, this paper aims to identify and estimate the main variables that affect the travel demand in low population areas, and to develop models to predict them. The study focused on the Port Said Govemorate in North East Egypt. A special questionnaire had been prepared in 2010 depending on interviews of passengers at basic taxi terminals in Port Said. And 2211 filled questionnaires were offering for research. To analyze the data, two modeling procedures were used. One is the multiple linear regression and the other is the generalized linear modeling （GLM） applying normal distributions. It is found that GLM procedure offers more suitable and accurate approach than the linear regression for developing number of trips. The final demand models have statistics within the acceptable regions and, also, they are conceptually reasonable. These results are so important for Egyptian highway authorities to improve the efficiency of highway transportation system in Egypt.展开更多
基金This work was supported by the Chinese National Nature Science Foundation research Grant 30572015Beijing Nature Science Foundation research Grant 7062062.
文摘Mutations in GJB2 gene are the most frequently found mutations in patients with nonsyndromic hearing impairment. However, the spectrum and prevalence of mutations in this gene vary among different ethnic groups. In China, 30,000 infants are born with congenital hearing impairment annually. In order to provide appropriate genetic testing and counseling to the families, we investigated the molecular etiology of nonsyndromic deafness in 103 unrelated school children attending Nantong School for the Deaf and Mute in Jiangsu Province, China. The coding exon of the GJB2 gene was PCR amplified and sequenced. Sixty two GJB2 mutant alleles were identified in 35.9% (37/103) of the patients. Twenty five patients carried two pathogenic mutations and 12 patients carried one mutant allele. The 235delC was the most common mutation accounting for 69.4% (43/62) of GJB2 mutant alleles. The GJB2 mutant alleles accounted for 30.1% (62/206) of all chromosomes responsible for nonsyndromic hearing impairment. Testing of the 3 most prevalent deleterious frame shift mutations in this cohort detected 100% of all GJB2 mutant alleles. These results demonstrate that an effective genetic testing of GJB2 gene for patients and families with nonsyndromic hearing impairment is possible.
文摘In the last decades, there has been substantial development in modeling techniques of travel demand estimation. For low population areas the external trip estimation is important but usually neglected in travel demand modeling process. In Egypt, the researches in this field are scarce due to lack of data. Accordingly, this paper aims to identify and estimate the main variables that affect the travel demand in low population areas, and to develop models to predict them. The study focused on the Port Said Govemorate in North East Egypt. A special questionnaire had been prepared in 2010 depending on interviews of passengers at basic taxi terminals in Port Said. And 2211 filled questionnaires were offering for research. To analyze the data, two modeling procedures were used. One is the multiple linear regression and the other is the generalized linear modeling （GLM） applying normal distributions. It is found that GLM procedure offers more suitable and accurate approach than the linear regression for developing number of trips. The final demand models have statistics within the acceptable regions and, also, they are conceptually reasonable. These results are so important for Egyptian highway authorities to improve the efficiency of highway transportation system in Egypt.
