The DOI matches its Crossref record.
Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
Abstract
Bardet-Biedl syndrome is a heterogeneous autosomal recessive disorder characterized by obesity, mental retardation, polydactyly, retinitis pigmentosa and hypogonadism. Patients with this disorder also have a high incidence of hypertension, diabetes mellitus, and renal and cardiovascular anomalies. Three independent loci causing Bardet-Biedl syndrome have previously been reported. In this study, we we utilized a DNA pooling approach using DNA samples from a highly inbred Bedouin kindred to identify a new Bardet-Biedl syndrome locus on chromosome 15. The results further demonstrate the genetic heterogeneity of this disorder. In addition, the results demonstrate the efficiency of the DNA pooling approach for identifying recessive disease loci in highly inbred human populations.
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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
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
Self-citationIdentification of the gene that, when mutated, causes the human obesity syndrome BBS4
Mykytyn, K., Braun, T., Carmi, R., Haider, N. B., Searby, C. C., Shastri, M., Beck, G., Wright, A. F., Iannaccone, A., Elbedour, K., et al. (2001) · Nature Genetics · doi:10.1038/88925 · Cited by 274
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Metadata
- Authors
- Carmi, R., Rokhlina, T., Kwitek-Black, A. E., Elbedour, K., Nishimura, D., Stone, E. M., & Sheffield, V. C.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1995-01-01
- Volume
- 4
- Issue
- 1
- Pages
- 9-13
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2086327749
- Cited by
- 184
- References
- 0
- FWCI
- 11.15
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. https://app.cochat.ai/papers/10.1093/hmg/4.1.9
- The paper
- Carmi, R., Rokhlina, T., Kwitek-Black, A. E., Elbedour, K., Nishimura, D., Stone, E. M., & Sheffield, V. C. (1995). Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. Human Molecular Genetics. https://doi.org/10.1093/hmg/4.1.9
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