Hypertonia gene

Details Hypertonia gene Hypertonia gene

1999-02-05

2001-06-19

Carlson, Karen Cochrane (Department: 1653)

Organic compounds -- part of the class 532-570 series

Organic compounds

Carbohydrates or derivatives

Reexamination Certificate

active

06248873

ABSTRACT:

FIELD OF THE INVENTION
The present invention is in the field of molecular biology and biochemistry. Specifically, the present invention relates to a hypertonia gene and its use.
BACKGROUND OF THE INVENTION
Hypertonia, i e. high-blood pressure, is one of the most frequent causes of cardiovascular diseases, particularly of apoplexies. Even though it has long been known from investigations made with twins that hypertonia is due to genetic factors, the ethological and pathogenetic factors are still largely unknown at present. Although molecular methods have accelerated the research of hypertonia, particularly with transgenic animals, they also have made clear that hypertonia is a heterogeneous and complex disease that is caused by gene-gene and gene-environment interactions. The search for genes linked to hypertonia has not yet yielded any satisfactory results.
Therefore, it is the object of the present invention to provide a product by which the genetic cause of hypertonia can be investigated.
According to the invention, this is achieved by the subject matter defined in the claims.
SUMMARY OF THE INVENTION
The subject matter of the present invention relates to a gene located on chromosome 12p in the genomic region between genome markers AFM338WH5 and D12S1057, particularly between genome markers D12S1650 and D12S1057.
Applicant has discovered that the diseases hypertonia, brachydactyly, i.e. shortened extremities, and disorders of fibroblast growth in the form of a shortened cell cycle can be inherited jointly in an autosomal dominant fashion. Applicant has found that a gene is responsible for these conditions. The gene is located on chromosome 12p in the genomic region between genome markers AFM338WH5 and D12S1057, particularly between genome markers D12S1650 and Dl2S1057. Applicant discovered these findings in an investigation of a Turkish family, 50% of the members of which suffer from the above diseases. For this purpose, Applicant carried out an exclusion analysis in which conventional genome markers were used which comprise polymorphous regions of the human genome.


REFERENCES:
patent: WO 94/08048A (1994-04-01), None
Albertson et al., “Construction and Characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents”,Proc. Natl. Acad. Sci. USA87:4256-4260 (1990).
Baehring et al., “Construction of a physical map and additional phenotyping in autosomal dominant hypertension and brachydactyly, which maps to chromosome 12”,American Journal of Human Genetics, Bd 59 No. 4 (Supp), (1996).
Bilginturan et al., “Hereditary brachydactyly associated with hypertension”,Journal of Medical Genetics10:253-259 (1973).
Frossard et al., “Association between a dimorphic site on chromosome 12 and clinical diagnosis of hypertension in three independent populations”Clinical Genetics48(6):284-287, (1995).
Schuster et al., “Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12”,Nature Genetics13(1) 98-100 (1996).

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