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Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping
Abstract
Bardet-Biedl syndrome is an autosomal recessive disorder characterized by mental retardation, obesity, retinitis pigmentosa, polydactyly and hypogonadism. Individuals with this disorder also have an increased incidence of hypertension, diabetes mellitus, and renal and cardiac anomalies. We previously identified a locus on chromosome 16 causing this disorder, and provided evidence that Bardet-Biedl syndrome is heterogeneous. In this study, we identify another Bardet-Biedl syndrome locus on chromosome 3 and confirm the non-allelic heterogeneity of this disorder in Bedouin populations. In addition, we demonstrate the feasibility of using pooled DNA samples from members of large kindreds as an efficient approach to homozygosity mapping.
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Citations
Cited by
Searching for genetic determinants in the new millennium
Risch, N. J. (2000) · Nature · doi:10.1038/35015718 · Cited by 1,839
The Human Obesity Gene Map: The 2005 Update
Rankinen, T., Zuberi, A., Chagnon, Y. C., Weisnagel, S. J., Argyropoulos, G., Walts, B., Pérusse, L., & Bouchard, C. (2006) · Obesity · doi:10.1038/oby.2006.71 · Cited by 1,119
Ciliopathies: an expanding disease spectrum
Waters, A. M., & Beales, P. L. (2011) · Pediatric Nephrology · doi:10.1007/s00467-010-1731-7 · Cited by 676
Risch, N., & Teng, J. (1998) · Genome Research · doi:10.1101/gr.8.12.1273 · Cited by 366
Mutations in MKKS cause Bardet-Biedl syndrome
Slavotinek, A. M., Stone, E. M., Mykytyn, K., Heckenlively, J. R., Green, J. S., Heon, E., Musarella, M. A., Parfrey, P. S., Sheffield, V. C., & Biesecker, L. G. (2000) · Nature Genetics · doi:10.1038/79116 · Cited by 275
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Metadata
- Authors
- Sheffield, V. C., Carml, R., Kwltek-Black, A., Rokhlina, T., Nishlmura, D., Duyk, G. M., Elbedour, K., Sunden, S. L., & Stone, E. M.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1994
- Volume
- 3
- Issue
- 8
- Pages
- 1331-1335
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W1966774918
- Cited by
- 220
- References
- 0
- FWCI
- 6.74
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. https://app.cochat.ai/papers/10.1093/hmg/3.8.1331
- The paper
- Sheffield, V. C., Carml, R., Kwltek-Black, A., Rokhlina, T., Nishlmura, D., Duyk, G. M., Elbedour, K., Sunden, S. L., & Stone, E. M. (1994). Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping. Human Molecular Genetics. https://doi.org/10.1093/hmg/3.8.1331
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