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| 结晶样视网膜色素变性的基因突变分析 |
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| 作者：单明华 李… 文章来源：首都医科大学附属北京同仁医院，同仁眼科中心,北京市眼科研究所 点击数1917 更新时间：2005/7/4 21:31:50 文章录入：一杯水 责任编辑：毛进 |
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| Abstract
Purpose: Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive disorder of retinal degeneration characterized by small glittering crystals in the corneal limbus, posterior pole of the eye, and circulating lymphocytes. Recently mutations in a new gene CYP4V2, encoding a protein belonging to a novel member of the cytochrome P450 family, have been identified as the cause of BCD. To further characterize the role of the CYP4V2 gene in Bietti crystalline corneoretinal dystrophy (BCD), mutation screening has been undertaken in a cohort of affected patients with BCD from China.
Methods: Eight unrelated families, including 14 patients and 18 unaffected relatives, and 10 sporadic patients were examined clinically. Fifty normal Chinese individuals served as control subjects. Genomic DNA was extracted from venous blood of all participants. The coding region including intron-exon boundary of the CYP4V2 gene was amplified by polymerase chain reaction (PCR). The PCR products were analyzed using direct sequencing and single strand conformation polymorphism (SSCP).
Results: Fundus examination revealed clinical features of BCD with many small, yellowish-sparking crystals at the posterior pole of the fundus. Sequencing of the CYP4V2 gene identified nine ( 5 missense, 1 nonsense, 2 deletion, and 1 point A→G transversion in splice accepter site) mutations in 8 families and 9 independent patients. Six of these mutations are novel.
Conclusion: Our finding expands the spectrum of CYP4V2 gene mutations causing BCD, and further confirms the role of CYP4V2 gene in the pathogenesis of BCD.
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