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Yining Shi; A New Arg54Gly Transthyretin Gene Mutation Associated With Vitreous Amyloidosis In Chinese. Invest. Ophthalmol. Vis. Sci. 2011;52(14):64.
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© ARVO (1962-2015); The Authors (2016-present)
To study the hereditary features of a Chinese pedigree with familial vitreous amyloidosis in Liaoning Province, China and the relationship between the disease and transthyretin(TTR)gene mutation, including the locus and type of TTR gene mutation.
We had final diagnosis for 5 patients of 10 eyes with vitreous amyloidosis from one Chinese family from July 1996 to April 2009. We followed up this family and the peripheral venous blood from 9 members, including 2 patients,were drawn with their informed consent. The DNAs were extracted and 4 exons of TTR gene were amplified by polymerase chain reaction(PCR). The gene fragments were sequencing, and the results were analyzed with DNAMAN Windows 220.127.116.11 and the Chromas sequence chart analysis software and the normal human TTR gene exons were compared with at the meantime.
Of the vitreous residuals in 4 cases of 7 eyes, Congo red stainings were positive, which confirmed clinically that this family suffered from familial vitreous amyloidosis. Family pedigree analysis revealed that the patients appeared in three generations, male and female had equal prevalence, one of patient's parents was involved. TTR gene exons sequencing showed consistent completely with normal human. The TTR gene showed no mutation in the 7 family members who have not involved yet, while there showed the TTR Arg54Gly point mutation in 2nd exon in the two patients.
We found that this pedigree with familial viteous amyloidosis of Liaoning province was characteristized by autosomal dominant genetic type. Arg54Gly transthyretin gene mutation in 2nd exon may be the pathogenesis of this familial vitreous amyloidosis.
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