A genetic study of retinoblastoma.
Eight patients with retinoblastoma (RB) were studied by high resolution chromosome R-banding technique, and the esterase D was quantitatively determined in red blood cells of the patients. Among these patients, 2 showed 13q14 deletion mosaicism, 1 showed a monosomy 13q14.1-q14.2, and the remaining 5 had normal karyotype. Our findings indicated that 1) the RB gene is located at 13q14.1. The result confirmed previous data; 2) 13q deletion is an important event in the development of RB; and 3) esterase D determination is an important diagnostic tool in the detection of 13q deletion, useful for prenatal diagnosis and genetic counselling.
Liu
X X
XX
Department of Medical Genetics, Tongji Medical University, Wuhan.
Sun
Y J
YJ
Zhang
L
L
D000293:Adolescent; D000328:Adult; D043182:Carboxylesterase; D002265:Carboxylic Ester Hydrolases / Q000097:blood; D002648:Child; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D005134:Eye Neoplasms / Q000201:enzymology / Q000235:genetics*; D005260:Female; D016161:Genes, Retinoblastoma; D006801:Humans; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009006:Monosomy; D009030:Mosaicism; D012175:Retinoblastoma / Q000201:enzymology / Q000235:genetics*
D002265:Carboxylic Ester Hydrolases; D043182:Carboxylesterase; C020118:ESD protein, human