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Exon-by-exon Screening for RB Germline Mutations Using Heteroduplex-SSCP Analysis

眼科学报 1997年第1期13卷 5-11页

作者： qingjiong zhang, kensei minoda, ruiping zeng, zhongyao wu xueshan xiao, shiqiang li, fengshen zhangzhongshan ophthalmic center Department of Medica GeneticsSun Yat-sen University of Medical Sciences , Guangzhou 510060 , ChinaDepartment of Ophthalmology, Teikyo University Ichihara Hospital, Ichihara , Chiba 299 - 01, Japan. Zhongshan ophthalmic center Sun Yat-sen University of Medical Sciences Guangzhou 510060 China.

Objective: To disclose the nature of RBI germline mutations in Chinese and to develop a practical and effective way for mutational screening. Methods: Leukocyte DNA was prepared from 8 Chinese patients with hereditary retinoblastoma. PCR combined with nonisotopic heteroduplex-SSCP analysis was used to screen leukocyte DNA for RBI germline mutations, exon-by-exon, without the use of restriction endonuclease digestion. The mutations were finally identified by sequencing. In order to testify the effectiveness of this method, the same method was used to detect other 17 samples which have been previously analyzed by other methods. Results: Heterozygous germline mutations were detected in the leukocyte DNA of 6 out of 8 Chinese patients;G del/codon 46,T del/codon 131 ,CAGAA del/condon 257 -258, GCAgta→GCAgca/donor of exon 16, C@T/codon 661, and C→T/codon 787. Heteroduplex-SSCP analysis may detect RBI germline mutations in 68% (177 25) unselected patients, which is more effective than SSCP(56%) or

关键词：成视网膜细胞瘤突变 SSCP 遗传因素非遗传因素

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Retinoma and Phthisis Bulbi of Retinoblastoma *** and Genetic Analysis

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眼科学报 1992年第3期8卷 117-121页

作者： qingjiong zhang Youzhao Chen zhongyao wu Qiaoyun Ma ruiping zeng Xiangming Guo Danyang li National Ophthalmological Laboratories,Ministry of Public Health,China Zhongshan ophthalmic center,Sun Yat-sen University of Medical Sciences,Guangzhou 510060,China National Ophthalmological Laboratories Ministry of Public Health China.

Retinoma and phthisis bulbi of retinoblastoma are rare entitiesfound in retinoblastoma patients and their *** cases of phthisisbulbi of retinoblastoma and 9 cases of retinoma were identified from 1966 to1991 in our *** clinic data show that retinoma and phthisis bulbi areclosely related to the retinoblastoma *** should be carried outas soon as possible without hesitation for the phthisis of eyes with *** counseling and frequent observation should be p...

关键词： Retinoma Retinoblastoma phthisis bulbi spontaneous regression

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