行政院國家科學委員會專題研究計畫期中進度報告:病理性近視之基因體篩選(2/3)
Date Issued
2004
Date
2004
Author(s)
施永豐
DOI
922314B002154
Abstract
Myopia is common in the Taiwan, and its cost to society is high. A nationwide
survey which is performed in 2000 to determine the prevalence and severity of
myopia among schoolchildren in Taiwan and to compare these findings with the
results of the last survey performed in 1995 showed that the myopia rate increased
from 20% at 7 years, to 61% at 12 years, and 81% at 15 years. A myopic rate of 84%
is found for schoolchildren aged 16 years through 18 years. The mean refractive index
reached myopic status at the age of 8, and increased to -4.12 D in girls and -3.15 D in
boys at the age of 18 years. The prevalence of high myopia (> -6.0 D) at the age of 18
years is 24% in girls and 18% in boys. The increase in axial length corresponded with
the progression of myopia. The prevalence and severity of myopia in schoolchildren
in Taiwan in 2000 increased compared to 1995, with the most severe increases
occurring in younger age groups.
Pathologic myopia, which is a well-defined disease with severely increased axial
length and equatorial diameter, is presumed to be inherited with a Mendelian rule. In
Taiwan, the incidence of myopia, even high myopia, is extremely high. The
socioeconomic cost of high incidence of myopia is a very serious problem in Taiwan.
It is hard to explain why only the environmental factors induce the high incidence rate
of myopia in this region. There must be existed some genetic factors in the
development of myopia in this region. If we find the possible genes in myopia, we
will be able to find the possible environmental stimuli which can influence the
expression of the genetic components. As aforementioned, the Mendelian
transmission of pathologic myopia in Chinese is confirmed by genetic
epidemiological study. Therefore, we are very interested in the possible genetic
factors, chromosome, in the role of development of pathologic myopia. Through the
discovery of possible genetic components of pathologic myopia, we can further define
these genes in the general myopia as the role of GLCA1 in juvenile glaucoma.
Linkage disequilibrium (LD) analysis, which effectively incorporates the effects of
many past generations of recombination, has often been instrumental in the final
phases of gene localization. These successes have fueled hopes that similar
approaches will be effective in localizing genes underlying susceptibility to common,
complex diseases.
In present study, we approach the myopia gene in various chromosomes through
the modern technology. First, we would like to screen SNPs in several possible
candidate genes in age-matched patients with pathological myopia and control group
through a case control study for chromosome 11, 12, and 18. DNA sequencing of
these genes will be performed to find out the possible polymorphisms/mutations in the
family with well-defined pedigrees. Finally, we will use the model of linkage analysis
and genome wide scanning in certain families with pathological myopia.
Publisher
臺北市：國立臺灣大學醫學院眼科
Type
journal article
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