Abstract
A gene for Holt-Oram syndrome (HOS) has been previously mapped to chromosome 12q2 and designated HOS1. We have identified a HOS patient with a de novo chromosomal rearrangement involving 12q. Detailed cytogenetic analysis of this case reveals three breaks on 12q, and two of these are within the HOS1 interval. By using a combination of chromosome painting and FISH with YACs and cosmids, it has been possible to map these breakpoints within the critical HOS1 interval and thus provide a focus for HOS gene-identification efforts.
Full text
PDF![1337](https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5b87/1914871/c6b40f542876/ajhg00025-0170.png)
![1338](https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5b87/1914871/119f4980db79/ajhg00025-0171.png)
![1339](https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5b87/1914871/e316e00ac307/ajhg00025-0172.png)
![1340](https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5b87/1914871/8c14d3026173/ajhg00025-0173.png)
![1341](https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5b87/1914871/eab2020998e2/ajhg00025-0174.png)
Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Bamshad M., Krakowiak P. A., Watkins W. S., Root S., Carey J. C., Jorde L. B. A gene for ulnar-mammary syndrome maps to 12q23-q24.1. Hum Mol Genet. 1995 Oct;4(10):1973–1977. doi: 10.1093/hmg/4.10.1973. [DOI] [PubMed] [Google Scholar]
- Basson C. T., Solomon S. D., Weissman B., MacRae C. A., Poznanski A. K., Prieto F., Ruiz de la Fuente S., Pease W. E., Levin S. E., Holmes L. B. Genetic heterogeneity of heart-hand syndromes. Circulation. 1995 Mar 1;91(5):1326–1329. doi: 10.1161/01.cir.91.5.1326. [DOI] [PubMed] [Google Scholar]
- Birnboim H. C., Doly J. A rapid alkaline extraction procedure for screening recombinant plasmid DNA. Nucleic Acids Res. 1979 Nov 24;7(6):1513–1523. doi: 10.1093/nar/7.6.1513. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Bonnet D., Pelet A., Legeai-Mallet L., Sidi D., Mathieu M., Parent P., Plauchu H., Serville F., Schinzel A., Weissenbach J. A gene for Holt-Oram syndrome maps to the distal long arm of chromosome 12. Nat Genet. 1994 Apr;6(4):405–408. doi: 10.1038/ng0494-405. [DOI] [PubMed] [Google Scholar]
- Driesen M. S., Dauwerse J. G., Wapenaar M. C., Meershoek E. J., Mollevanger P., Chen K. L., Fischbeck K. H., van Ommen G. J. Generation and fluorescent in situ hybridization mapping of yeast artificial chromosomes of 1p, 17p, 17q, and 19q from a hybrid cell line by high-density screening of an amplified library. Genomics. 1991 Dec;11(4):1079–1087. doi: 10.1016/0888-7543(91)90035-d. [DOI] [PubMed] [Google Scholar]
- Foster J. W., Dominguez-Steglich M. A., Guioli S., Kwok C., Weller P. A., Stevanović M., Weissenbach J., Mansour S., Young I. D., Goodfellow P. N. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature. 1994 Dec 8;372(6506):525–530. doi: 10.1038/372525a0. [DOI] [PubMed] [Google Scholar]
- HOLT M., ORAM S. Familial heart disease with skeletal malformations. Br Heart J. 1960 Apr;22:236–242. doi: 10.1136/hrt.22.2.236. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Hoffman C. S., Winston F. A ten-minute DNA preparation from yeast efficiently releases autonomous plasmids for transformation of Escherichia coli. Gene. 1987;57(2-3):267–272. doi: 10.1016/0378-1119(87)90131-4. [DOI] [PubMed] [Google Scholar]
- Hudson T. J., Stein L. D., Gerety S. S., Ma J., Castle A. B., Silva J., Slonim D. K., Baptista R., Kruglyak L., Xu S. H. An STS-based map of the human genome. Science. 1995 Dec 22;270(5244):1945–1954. doi: 10.1126/science.270.5244.1945. [DOI] [PubMed] [Google Scholar]
- Hurst J. A., Hall C. M., Baraitser M. The Holt-Oram syndrome. J Med Genet. 1991 Jun;28(6):406–410. doi: 10.1136/jmg.28.6.406. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Jamieson C. R., van der Burgt I., Brady A. F., van Reen M., Elsawi M. M., Hol F., Jeffery S., Patton M. A., Mariman E. Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nat Genet. 1994 Dec;8(4):357–360. doi: 10.1038/ng1294-357. [DOI] [PubMed] [Google Scholar]
- Krauter K., Montgomery K., Yoon S. J., LeBlanc-Straceski J., Renault B., Marondel I., Herdman V., Cupelli L., Banks A., Lieman J. A second-generation YAC contig map of human chromosome 12. Nature. 1995 Sep 28;377(6547 Suppl):321–333. doi: 10.1038/377321a0. [DOI] [PubMed] [Google Scholar]
- Mulvihill J. J. Craniofacial syndromes: no such thing as a single gene disease. Nat Genet. 1995 Feb;9(2):101–103. doi: 10.1038/ng0295-101. [DOI] [PubMed] [Google Scholar]