Quantitative DNA pooling to increase the efficiency of linkage analysis in autosomal dominant disease

Human Genetics

Volumn 102, Issue 2, 1998, Pages 207-212

  Damji, K F ^a   Gallione, C J ^b   Allingham, R R ^b   Slotterbeck, B ^b   Guttmacher, A E ^c   Pasyk, K A ^d   Vance, J M ^b   Pericak Vance, M A ^b   Speer, M C ^b   Marchuk, D A ^b  

^a UNIVERSITY OF OTTAWA   (Canada)

^b DUKE UNIVERSITY   (United States)

^c UNIVERSITY OF VERMONT   (United States)

^d UNIVERSITY OF MICHIGAN   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 9P; CHROMOSOME 9Q; CONGENITAL BLOOD VESSEL MALFORMATION; CONTROLLED STUDY; DNA DETERMINATION; GENETIC LINKAGE; HUMAN; INBREEDING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; QUANTITATIVE GENETICS; RENDU OSLER WEBER DISEASE;

ALLELES; ARTERIOVENOUS MALFORMATIONS; CHROMOSOMES, HUMAN, PAIR 9; DNA; GENE FREQUENCY; GENES, DOMINANT; GENETIC MARKERS; GENETIC SCREENING; HUMANS; LINKAGE (GENETICS); TELANGIECTASIA, HEREDITARY HEMORRHAGIC;

LANES;

EID: 0031925113     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050679     Document Type: Article

References (19)

1. Carmi R, Rokhlina T, Kwitek-Black AE, Elbedour K, Nishimura D, Stone EM, Sheffield VC (1995) Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Hum Mol Genet 4:9-13
2. Darvasi KA, Plotski Y, Soller M (1994) Determining relative microsatellite allele frequencies in pooled DNA samples. PCR Methods Appl 4:13-18
3. Gallione CJ, Pasyk KA, Boon LM, Lennon F, Johnson DW, Helm-bold EA, Markel DS, Vikkula M, Mulliken JB, Warman ML, Pericak-Vance MA, Marchuk DA (1995) A gene for familial venous malformations maps to chromosome 9p in a second large kindred. J Med Genet 32:197-199
4. Gschwend M, Levran O, Kruglyak L, Ranade K, Verlander PC, Shen S, Faure S, Weissenbach J, Altay C, Lander Es, Auerbach AD, Botstein D (1996) A locus for Fanconi anemia on 16q determined by homozygosity mapping. Am J Hum Genet 59: 377-384
5. Ben Hamida C, Doerflinger N, Belal S, Linder C, Reutenauer L, Dib C, Gyapay G (1993) Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. Nat Genet 5:195-200
6. Kanis AB, Beck JS, Rokhlina T, Tchida C, Stone EM, Sheffield VC (1995) Use of DNA pooling strategies for mapping dominant disorders and the potential application to mapping complex diseases. Am J Hum Genet (suppl) 57:A195
7. Lander ES, Botstein D (1987) Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 236:1567-1570
8. LeDuc C, Miller P, Lichter J, Parry P (1995) Batched analysis of genotypes. PCR Methods Appl 4:331-336
9. McAllister KA, Grogg KM, Johnson DW, Gallione CJ, Baldwin MA, Jackson CE, Helmbold EA, Markel DS, McKinnon WC, Murrell J, McCormick MK, Pericak-Vance MA, Heutink P, Oostra BA, Haitjema T, Westerman CJJ, Porteous ME, Guttmacher AE, Letarte M, Marchuk DA (1994) Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary lemorrhagic telangiectasia type 1. Nat Genet 8:345-351
10. McDonald MT, Papenberg KA, Ghosh S, Glatfelter AA, Biesecker BB, Helmbold EA, Markel DS, Zoloter A, McKinnon WC, Vanderstoep JL, Jackson CE, Iannuzzi M, Collins FS, Boehnke M, Porteous ME, Guttmacher AE, Marchuk DA (1994) A disease locus for hereditary haemorrhagic telangiectasia maps to chromosome 9q33-34. Nat Genet 6:197-204
11. Murray JC, Buetow KH, Weber JL, Ludwigsen S, Scherpbier-Heddema TS, Manion F, Quillen J, Sheffield VC, Duyk GM, Weissenbach J, Lathrop GM, White R, Ward D, Dausset J, Cohen D (1994) A comprehensive human linkage map with centimorgan density. Science 265:2049-2054
12. Pacek P, Sajantila A, Syvanen A (1993) Determination of allele frequencies at loci with length polymorphism by quantitative analysis of DNA amplified from pooled samples. PCR Methods Appl 2:313-317
13. Perlin MW, Lancia G, Ng S (1995) Toward fully automated genotyping: genotyping microsatellite markers by deconvolution. Am J Hum Genet 57:1199-1210
14. Pollak MR, Chou YH, Cerda JJ, Steinmann B, La DB, Seidman JG, Seidman CE (1993) Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Nat Genet 5:201-204
15. Sheffield VC, Carmi R, Black AK, Rokhlina T, Nishimura D, Duyk GM, Elbedour K, Sunden S, Stone EM (1994) Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Hum Mol Genet 3:1331-1335
16. Sheffield VC, Nishimura DY, Stone EM (1995) Novel approaches to linkage mapping. Curr Opin Genet Dev 5:335-341
17. Sheffield VC, Pierpont ME, Nishimura D, Beck JS, Burns TL, Berg MA, Stone EM, Patil SR, Lauer RM (1997) Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis. Hum Mol Genet 6:117-121
18. Smith CAB (1953) The detection of linkage in human genetics. J R Stat Soc B 15:153-192
19. Vikkula M, Boon LM, Carraway KL III, Calvert JT, Diamonti AJ, Goumnerov B, Pasyk KA, Marchuk DA, Warman DL, Cantley LC, Mulliken JB, Olsen BR (1996) Vascular dysmorphogenesis caused by an activating mutation in the receptor tyrosine kinase TIE2. Cell 87:1181-1190