title: The use of DNA probes to establish parental origin in Down syndrome.
abstract: Molecular analysis was performed to determine the parental origin of the extra number 21 chromosome in 20 couples following the birth of a child with standard trisomy 21. The parent of origin was successfully identified in 9 of 20 (45%) using five chromosome-21-specific DNA probes and eight restriction endonucleases by restriction fragment length polymorphism and dosage analysis; seven were of maternal and two of paternal origin. Utilizing the observed allele frequencies, the expected frequencies of informative homozygous matings [2(p2q2)] approximate 10% for seven of eight enzyme/probe combinations; the eighth, TaqI/pPW231F (D21S3), is 3%. The observed phenotype frequencies for all enzyme/probe combinations tested conform closely to predictions by the Hardy-Weinberg law. Strong linkage disequilibrium was observed between the DNA markers of EcoRI and TaqI with probe pPW236B; identical results were obtained with G-95 alpha 1-11a. We were able to demonstrate that although these two probes are of different size, and hence not identical, they detect the same TaqI and EcoRI polymorphisms; therefore both should be assigned to a single locus, D21S11.
mesh_terms: D004247:DNA / Q000235:genetics*; D004314:Down Syndrome / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008297:Male; D010290:Parents; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D005819:Genetic Markers; D004247:DNA