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Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q.
Nat Genet 1994; 6(4):401-4NGen

Abstract

Holt-Oram syndrome (HOS) is an autosomal dominant condition affecting the heart and upper limbs. We have sought to identify the location of this gene using microsatellite DNA markers in a linkage study. Of seven families analysed, five show linkage between HOS and markers on chromosome 12q. But the two remaining families, phenotypically indistinguishable from the others, do not show this linkage. Analysis with the computer program HOMOG indicates that HOS is a heterogeneous disease. Our analysis places one HOS locus in a 21 cM interval in the distal region of chromosome 12q. The localization of a gene for HOS, reported here, represents an important step towards a better understanding of limb and cardiac development.

Authors+Show Affiliations

Centre for Medical Genetics City Hospital, Nottingham, UK.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

8054982

Citation

Terrett, J A., et al. "Holt-Oram Syndrome Is a Genetically Heterogeneous Disease With One Locus Mapping to Human Chromosome 12q." Nature Genetics, vol. 6, no. 4, 1994, pp. 401-4.
Terrett JA, Newbury-Ecob R, Cross GS, et al. Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q. Nat Genet. 1994;6(4):401-4.
Terrett, J. A., Newbury-Ecob, R., Cross, G. S., Fenton, I., Raeburn, J. A., Young, I. D., & Brook, J. D. (1994). Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q. Nature Genetics, 6(4), pp. 401-4.
Terrett JA, et al. Holt-Oram Syndrome Is a Genetically Heterogeneous Disease With One Locus Mapping to Human Chromosome 12q. Nat Genet. 1994;6(4):401-4. PubMed PMID: 8054982.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q. AU - Terrett,J A, AU - Newbury-Ecob,R, AU - Cross,G S, AU - Fenton,I, AU - Raeburn,J A, AU - Young,I D, AU - Brook,J D, PY - 1994/4/1/pubmed PY - 1994/4/1/medline PY - 1994/4/1/entrez SP - 401 EP - 4 JF - Nature genetics JO - Nat. Genet. VL - 6 IS - 4 N2 - Holt-Oram syndrome (HOS) is an autosomal dominant condition affecting the heart and upper limbs. We have sought to identify the location of this gene using microsatellite DNA markers in a linkage study. Of seven families analysed, five show linkage between HOS and markers on chromosome 12q. But the two remaining families, phenotypically indistinguishable from the others, do not show this linkage. Analysis with the computer program HOMOG indicates that HOS is a heterogeneous disease. Our analysis places one HOS locus in a 21 cM interval in the distal region of chromosome 12q. The localization of a gene for HOS, reported here, represents an important step towards a better understanding of limb and cardiac development. SN - 1061-4036 UR - https://www.unboundmedicine.com/medline/citation/8054982/Holt_Oram_syndrome_is_a_genetically_heterogeneous_disease_with_one_locus_mapping_to_human_chromosome_12q_ L2 - http://dx.doi.org/10.1038/ng0494-401 DB - PRIME DP - Unbound Medicine ER -