Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping

Journal Article · Wed Feb 01 04:00:00 EST 1995 · American Journal of Human Genetics

OSTI ID:70409

Kruglyak, L; Daly, M J ^[1]; Lander, E S ^[1]

---

1. Whitehead Institute for Biomedical Research, Cambridge, MA (United States)

Homozygosity mapping is a powerful strategy for mapping rare recessive traits in children of consanguineous marriages. Practical applications of this strategy are currently limited by the inability of conventional linkage analysis software to compute, in reasonable time, multipoint LOD scores for pedigrees with inbreeding loops. We have developed a new algorithm for rapid multipoint likelihood calculations in small pedigrees, including those with inbreeding loops. The running time of the algorithm grows, at most, linearly with the number of loci considered simultaneously. The running time is not sensitive to the presence of inbreeding loops, missing genotype information, and highly polymorphic loci. We have incorporated this algorithm into a software package, MAPMAKER/HOMOZ, that allows very rapid multipoint mapping of disease genes in nuclear families, including homozygosity mapping. Multipoint analysis with dozens of markers can be carried out in minutes on a personal workstation. 23 refs., 4 figs., 1 tab.

• OSTI ID: 70409
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: 2 Vol. 56; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
99 GENERAL AND MISCELLANEOUS
ALGORITHMS
COMPUTER CODES
GENES
GENETIC MAPPING
HUMAN CHROMOSOMES
RECESSIVE MUTATIONS