Association of polymorphisms in the gene region with bone mineral density
IPC분류정보
국가/구분
United States(US) Patent
등록
국제특허분류(IPC7판)
C12Q-001/68
C12P-019/34
C07H-021/02
C07H-021/04
출원번호
UP-0408168
(2003-04-03)
등록번호
US-7799523
(2010-10-11)
발명자
/ 주소
Paeper, Bryan W.
Proll, Sean
Charmley, Patrick R.
Brunkow, Mary E.
Uitterlinden, Andreas Gerardus
출원인 / 주소
Celltech R & D, Inc.
대리인 / 주소
Marshall, Gerstein & Borun LLP
인용정보
피인용 횟수 :
0인용 특허 :
45
초록▼
Compositions and methods are provided for determining in a subject a risk for having, or presence of, altered bone mineral density such as osteoporosis or osteopenia or other conditions characterized by decreased or increased bone density. Specifically, the invention relates to determination of a sc
Compositions and methods are provided for determining in a subject a risk for having, or presence of, altered bone mineral density such as osteoporosis or osteopenia or other conditions characterized by decreased or increased bone density. Specifically, the invention relates to determination of a sclerostin gene region nucleotide polymorphism (SRP) in DNA of the sclerostin gene region of human chromosome 17. In certain embodiments, SRPs that indicate an increased risk for altered bone mineral density occur as gender-associated polymorphisms. Isolated polynucleotides comprising representative SRPs are also provided.
대표청구항▼
What is claimed is: 1. A method for determining an increased risk for decreased bone mineral density in a human female subject aged 71-80 years, comprising: detecting the presence of a sclerostin gene region nucleotide polymorphism in a biological sample from a female subject, said sample comprisin
What is claimed is: 1. A method for determining an increased risk for decreased bone mineral density in a human female subject aged 71-80 years, comprising: detecting the presence of a sclerostin gene region nucleotide polymorphism in a biological sample from a female subject, said sample comprising DNA comprising at least 50 consecutive nucleotides that are present in SEQ ID NO: 1, wherein the polymorphism is a GGA trinucleotide insertion between positions 10565 and 10566 in SEQ ID NO: 1 or the complement thereof, wherein the presence of said polymorphism indicates an increased risk of decreased bone mineral density in female subjects aged 71-80 years. 2. The method of claim 1, wherein the detecting step comprises: contacting the biological sample with at least one oligonucleotide primer selected from the group consisting of SEQ ID NO: 8 and SEQ ID NO: 9, under conditions and for a time sufficient to allow hybridization of said primer to the DNA. 3. The method of claim 1, wherein the biological sample is selected from the group consisting of blood, biopsy specimen, tissue explant, organ culture and tissue sample. 4. The method of claim 2, further comprising: detecting hybridization and extension of the oligonucleotide primer to produce a product, and therefrom determining the presence the polymorphism. 5. The method of 1, wherein the DNA in the sample is amplified. 6. The method of claim 1, further comprising diagnosing the subject as having an increased risk of osteoporosis. 7. The method of claim 1, further comprising monitoring bone mineral density clinical parameters of the subject. 8. The method of claim 1, further comprising treating said female subject with an agent for treating decreased bone mineral density. 9. The method of claim 8 wherein the agent is selected from the group consisting of estrogen, calcium, vitamin D, calcitonin, bisphosphonates, anabolic steroids and sodium fluoride.
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이 특허에 인용된 특허 (45)
Btzow Ralf (Helsinki CA FIX) Ruoslahti Erkki (Rancho Santa Fe CA), 60 kDa transforming growth factor-b
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