Human chromosome 21 is the smallest human chromosome which comprises about 1.4% od human genome. In the last five years, many DNA polymorphisms have been mapped to this chromosome and two genetic linkage maps have been developed using large reference pedigrees. The average distance between DNA markers in the existing linkage maps is 6- 10 Cm. However, not all mapped DNA markers are adequately informative, easy to score and available, and few can be typed using the polymerase chain reaction. The goal of this proposal is to create a detailed linkage map of human chromosome 21 using index DNA markers that are highly informative (Het greater than 0.60) can be preferably typed with PCR and their density on chromosome 21 is such that the average distance between adjacent markers is less than 5 Cm.
| Lynn, A; Kashuk, C; Petersen, M B et al. (2000) Patterns of meiotic recombination on the long arm of human chromosome 21. Genome Res 10:1319-32 |
| Lutfalla, G; McInnis, M G; Antonarakis, S E et al. (1995) Structure of the human CRFB4 gene: comparison with its IFNAR neighbor. J Mol Evol 41:338-44 |
| Talbot Jr, C C; Avramopoulos, D; Gerken, S et al. (1995) The tetranucleotide repeat polymorphism D21S1245 demonstrates hypermutability in germline and somatic cells. Hum Mol Genet 4:1193-9 |
| Margolis, R L; Breschel, T S; Li, S H et al. (1995) Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain. Somat Cell Mol Genet 21:279-84 |
| Rogan, P K; Close, P; Blouin, J L et al. (1995) Duplication and loss of chromosome 21 in two children with Down syndrome and acute leukemia. Am J Med Genet 59:174-81 |
| Talbot Jr, C C; Warren, A C; Avramopoulos, D et al. (1993) Polymorphic dinucleotide repeats at the D3S1417, D3S1418 and D12S271 loci. Hum Mol Genet 2:1325 |
