Publication: Linkage Mapping in 29 Bardet–Biedl Syndrome Families Confirms Loci in Chromosomal Regions 11q13, 15q22.3–q23, and 16q21
Linkage Mapping in 29 Bardet–Biedl Syndrome Families Confirms Loci in Chromosomal Regions 11q13, 15q22.3–q23, and 16q21
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Bruford, E. A., Riise, R., Teague, P. W., Porter, K., Thomson, K. L., Moore, A. T., Jay, M., Warburg, M., Schinzel, A., Tommerup, N., Tornqvist, K., Rosenberg, T., Patton, M., Mansfield, D. C., & Wright, A. F. (1997). Linkage Mapping in 29 Bardet–Biedl Syndrome Families Confirms Loci in Chromosomal Regions 11q13, 15q22.3–q23, and 16q21. Genomics, 41, 93–99. https://doi.org/10.1006/geno.1997.4613
Abstract
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Abstract
Bardet-Biedl syndrome (BBS) is a clinically and genetically heterogeneous autosomal recessive disorder characterized by retinitis pigmentosa, polydactyly, obesity, hypogenitalism, mental retardation, and renal anomalies. To detect linkage to BBS loci, 29 BBS families, of mixed but predominantly European ethnic origin, were typed with 37 microsatellite markers on chromosomes 2, 3, 11, 15, 16, and 17. The results show that an estimated 36-56% of the families are linked to the 11q13 chromosomal site (BBS1) previously described by M. Lepp
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- Bruford, E A
- Riise, R
- Teague, P W
- Porter, K
- Thomson, K L
- Moore, A T
- Jay, M
- Warburg, M
- Schinzel, Albert
- Tommerup, Niels
- Tornqvist, K
- Rosenberg, T
- Patton, Michael
- Mansfield, D C
- Wright, A F
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Bruford, E. A., Riise, R., Teague, P. W., Porter, K., Thomson, K. L., Moore, A. T., Jay, M., Warburg, M., Schinzel, A., Tommerup, N., Tornqvist, K., Rosenberg, T., Patton, M., Mansfield, D. C., & Wright, A. F. (1997). Linkage Mapping in 29 Bardet–Biedl Syndrome Families Confirms Loci in Chromosomal Regions 11q13, 15q22.3–q23, and 16q21. Genomics, 41, 93–99. https://doi.org/10.1006/geno.1997.4613
