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Identification of genes causing mono...

Universiteit Antwerpen (Belgium).

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Identification of genes causing monogenic hearing impairment.

Record Type:	Language materials, printed : Monograph/item
Title/Author:	Identification of genes causing monogenic hearing impairment./
Author:	Hilgert, Nele.
Description:	230 p.
Notes:	Adviser: Guy Van Camp.
Contained By:	Dissertation Abstracts International69-10B.
Subject:	Biology, Genetics. -
Online resource:	http://pqdd.sinica.edu.tw/twdaoeng/servlet/advanced?query=3334852
ISBN:	9780549885788

Identification of genes causing monogenic hearing impairment.
Hilgert, Nele.

Identification of genes causing monogenic hearing impairment. - 230 p.

Adviser: Guy Van Camp.

Thesis (Ph.D.)--Universiteit Antwerpen (Belgium), 2008.

Hearing loss is the most common sensorineural disorder, affecting about one in 500 newborns. Hearing loss can be caused by environmental factors, genetic factors or a combination of both. Many different genes are involved in the hearing process and mutations in these gene can cause hereditary forms of hearing loss. It is essential that all these genes are identified and that their function in the hearing process is known in order to try to prevent or treat hearing loss.

ISBN: 9780549885788Subjects--Topical Terms:

1017730
Biology, Genetics.

Identification of genes causing monogenic hearing impairment.
LDR:02949nam 2200301 a 45 001 857056
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020 $a 9780549885788
035 $a (UMI)AAI3334852
035 $a AAI3334852
040 $a UMI $c UMI
100 1 $a Hilgert, Nele. $3 1023975
245 1 0 $a Identification of genes causing monogenic hearing impairment.
300 $a 230 p.
500 $a Adviser: Guy Van Camp.
500 $a Source: Dissertation Abstracts International, Volume: 69-10, Section: B, page: 5895.
502 $a Thesis (Ph.D.)--Universiteit Antwerpen (Belgium), 2008.
520 $a Hearing loss is the most common sensorineural disorder, affecting about one in 500 newborns. Hearing loss can be caused by environmental factors, genetic factors or a combination of both. Many different genes are involved in the hearing process and mutations in these gene can cause hereditary forms of hearing loss. It is essential that all these genes are identified and that their function in the hearing process is known in order to try to prevent or treat hearing loss.
520 $a During more than ten years, the Centre of Medical Genetics performs research to identify the genetic causes of hearing loss. This project focuses on the identification of genes and mutations in large hearing loss families. Five of the collected families are Belgian and patients suffer from non-syndromic, autosomal dominant hearing loss. In two of these families, changes of the MYO6 gene were identified as the cause of the hearing loss. In a third family, a known mutation in ACTG1 was found and in the other two families, no disease-causing mutations could be found. An additional 16 families with autosomal recessive hearing loss were also studied. In 14 families, linkage was found to a known hearing loss locus and a disease-causing mutation was found in 10 families. These mutations were found in the genes TMC1, OTOF, SLC26A4, USH1C en GPR98.
520 $a In a second part of this research, an association study was performed in a very specific population of patients with a homozygous 35delG mutation in GJB2. The hearing loss of these patients varies from mild to profound, although they all carry the same homozygous mutation. This variation can be explained by the influence of environmental factors and/or the influence of other genetic factors such as modifier genes. We looked for these modifying genes to explain at least part of the phenotypic variation. The results of this study suggested that this variation cannot be explained by the influence of one major modifier. Probably, different genes will mutually interact and all exert a smaller effect on the phenotype.
590 $a School code: 1513.
650 4 $a Biology, Genetics. $3 1017730
650 4 $a Health Sciences, Audiology. $3 1018138
690 $a 0300
690 $a 0369
710 2 $a Universiteit Antwerpen (Belgium). $3 1023974
773 0 $t Dissertation Abstracts International $g 69-10B.
790 $a 1513
790 1 0 $a Van Camp, Guy, $e advisor
791 $a Ph.D.
792 $a 2008
856 4 0 $u http://pqdd.sinica.edu.tw/twdaoeng/servlet/advanced?query=3334852