[Genetics of retinoblastoma]. 1995

K Minoda
Department of Ophthalmology, Teikyo University Ichihara Hospital.

Recent advancement of molecular genetics has enabled us to perform presymptomatic prediction for hereditary retinoblastoma, based on RB gene diagnosis. We used PCR combined with SSCP and heteroduplex analysis to screen leukocyte DNA, exon by exon, in patients with bilateral retinoblastoma. Germline mutations were detected in the 22 of the 33 cases, and, in 16 cases, the mutations were identified by sequencing. Among 2 families with those hereditary retinoblastoma presymptomatic prediction by the method described above was applied for 2 newborn babies, resulting in both success. It is expected that gene diagnosis will be applied for not only bilateral but also unilateral cases for genetic counseling.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D012150 Polymorphism, Restriction Fragment Length Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment. RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D004273 DNA, Neoplasm DNA present in neoplastic tissue. Neoplasm DNA
D005134 Eye Neoplasms Tumors or cancer of the EYE. Cancer of Eye,Eye Cancer,Cancer of the Eye,Neoplasms, Eye,Cancer, Eye,Cancers, Eye,Eye Cancers,Eye Neoplasm,Neoplasm, Eye
D005817 Genetic Counseling An educational process that provides information and advice to individuals or families about a genetic condition that may affect them. The purpose is to help individuals make informed decisions about marriage, reproduction, and other health management issues based on information about the genetic disease, the available diagnostic tests, and management programs. Psychosocial support is usually offered. Counseling, Genetic,Genetic Counseling, Prenatal,Prenatal Genetic Counseling
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001483 Base Sequence The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence. DNA Sequence,Nucleotide Sequence,RNA Sequence,DNA Sequences,Base Sequences,Nucleotide Sequences,RNA Sequences,Sequence, Base,Sequence, DNA,Sequence, Nucleotide,Sequence, RNA,Sequences, Base,Sequences, DNA,Sequences, Nucleotide,Sequences, RNA
D012175 Retinoblastoma A malignant tumor arising from the nuclear layer of the retina that is the most common primary tumor of the eye in children. The tumor tends to occur in early childhood or infancy and may be present at birth. The majority are sporadic, but the condition may be transmitted as an autosomal dominant trait. Histologic features include dense cellularity, small round polygonal cells, and areas of calcification and necrosis. An abnormal pupil reflex (leukokoria); NYSTAGMUS, PATHOLOGIC; STRABISMUS; and visual loss represent common clinical characteristics of this condition. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2104) Glioblastoma, Retinal,Glioma, Retinal,Neuroblastoma, Retinal,Eye Cancer, Retinoblastoma,Familial Retinoblastoma,Hereditary Retinoblastoma,Sporadic Retinoblastoma,Cancer, Retinoblastoma Eye,Cancers, Retinoblastoma Eye,Eye Cancers, Retinoblastoma,Familial Retinoblastomas,Glioblastomas, Retinal,Gliomas, Retinal,Hereditary Retinoblastomas,Neuroblastomas, Retinal,Retinal Glioblastoma,Retinal Glioblastomas,Retinal Glioma,Retinal Gliomas,Retinal Neuroblastoma,Retinal Neuroblastomas,Retinoblastoma Eye Cancer,Retinoblastoma Eye Cancers,Retinoblastoma, Familial,Retinoblastoma, Hereditary,Retinoblastoma, Sporadic,Retinoblastomas,Retinoblastomas, Familial,Retinoblastomas, Hereditary,Retinoblastomas, Sporadic,Sporadic Retinoblastomas
D016133 Polymerase Chain Reaction In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships. Anchored PCR,Inverse PCR,Nested PCR,PCR,Anchored Polymerase Chain Reaction,Inverse Polymerase Chain Reaction,Nested Polymerase Chain Reaction,PCR, Anchored,PCR, Inverse,PCR, Nested,Polymerase Chain Reactions,Reaction, Polymerase Chain,Reactions, Polymerase Chain

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