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US 5,851,768 AGranted
Method for diagnosis of ovarian dysgenesis
AssigneeHelsinki University Licensing, Ltd.
InventorsAlbert de la Chapelle, Ilpo Huhtaniemi, Kristiina Aittomaki
Life of this patent
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Abstract
Methods are provided for diagnosing ovarian dysgenesis, comprising analysis of DNA from a patient which encodes a portion of the receptor for follicle-stimulating hormone.
Claims19
A method for diagnosing ovarian dysgenesis in a female patient, comprising the steps of:
- obtaining a cell sample from a female patient;
- isolating nucleic acids from said cell sample;
- amplifying a portion of said nucleic acids, said portion encoding a receptor for follicle-stimulating hormone, thereby generating amplified DNA;
- exposing said amplified DNA to a restriction endonuclease selected from the group consisting of BsmI and restriction endonucleases having a recognition site which overlaps that of BsmI, under conditions wherein said restriction endonuclease specifically cleaves DNA at its recognition site;
- detecting polynucleotide restriction fragments of said amplified DNA;
- and
- diagnosing ovarian dysgenesis from said restriction fragments, wherein ovarian dysgenesis is correlated with a C to T mutation in codon 189 of DNA encoding a human receptor for follicle-stimulating hormone, said mutation eliminating a recognition site of said restriction endonuclease, whereby the absence of restriction fragments that are indicative of cleavage at said recognition site by said restriction endonuclease is an indication of ovarian dysgenesis.
4 more elements
A method for diagnosing ovarian dysgenesis in a female patient comprising the steps of:
- obtaining a cell sample from a female patient;
- isolating nucleic acids from said cell sample;
- amplifying a portion of said nucleic acids, said portion comprising exon 7 of a follicle-stimulating hormone receptor gene, said portion excluding any BsmI site outside of exon 7, thereby generating amplified DNA;
- exposing said amplified DNA to a restriction endonuclease selected from the group consisting of BsmI and restriction endonucleases having a recognition site which overlaps that of BsmI, under conditions wherein said restriction endonuclease specifically cleaves DNA at its recognition site;
- detecting said amplified DNA or polynucleotide restriction fragments thereof after said exposing step;
- and
- diagnosing ovarian dysgenesis from said detecting step, wherein ovarian dysgenesis is correlated with the detection of said amplified DNA and the absence of polynucleotide restriction fragments thereof.
4 more elements
A method for diagnosing ovarian dysgenesis in a female patient comprising the steps of:
- obtaining a cell sample from a female patient;
- isolating nucleic acids from said cell sample;
- amplifying a portion of said nucleic acids, said portion comprising exon 7 of a follicle-stimulating hormone receptor gene, said portion excluding any BsmI site outside of exon 7, thereby generating amplified DNA;
- exposing said amplified DNA to a restriction endonuclease selected from the group consisting of BsmI and restriction endonucleases having a recognition site which overlaps that of BsmI, under conditions wherein said restriction endonuclease specifically cleaves DNA at its recognition site;
- detecting said amplified DNA or polynucleotide restriction fragments thereof after said exposing step;
- and
- diagnosing ovarian dysgenesis from said detecting step, wherein ovarian dysgenesis is correlated with the detection of said amplified DNA and the absence of polynucleotide restriction fragments thereof.
4 more elements
A method for determining a follicle-stimulating hormone receptor (fshr) genotype in a human patient, comprising the steps of:
- (a) providing a biological sample comprising nucleic acid from said patient, said nucleic acid including said patient's fshr alleles;
- (b) analyzing said nucleic acid for the presence of a mutation or mutations in codon 189 of said fshr alleles;
- and
- (c) determining an fshr genotype from said analyzing step, wherein the presence of a mutation in codon 189 of a fshr allele is correlated with an ovarian dysgenesis genotype.
1 more element
A method for screening for an ovarian dysgenesis genotype in a patient, comprising the steps of:
- (a) providing a biological sample comprising nucleic acid from said patient, said nucleic acid including said patient's follicle-stimulating hormone receptor (fshr) alleles;
- (b) amplifying a portion of said nucleic acid to generate amplified DNA, said portion including codon 189 of said fshr alleles;
- (c) exposing said amplified DNA to a restriction endonuclease selected from the group consisting of BsmI restriction endonuclease and restriction endonucleases having a recognition site which overlaps a BsmI recognition site, under conditions wherein said restriction endonuclease specifically cleaves DNA at the recognition site of said restriction endonuclease;
- (d) thereafter detecting said amplified DNA or restriction fragments thereof;
- (e) comparing the amplified DNA or fragments thereof of step (d) to control nucleic acid of a human subject free of an ovarian dysgenesis genotype, wherein said control nucleic acid has been amplified, exposed, and detected in accordance with steps (b), (c), and (d);
- and
- (f) screening for an ovarian dysgenesis genotype from said comparison, wherein an ovarian dysgenesis genotype in said patient is correlated with a different number of detected amplified DNA or restriction fragments thereof from said patient's amplified DNA than from said control amplified DNA.
4 more elements
Dependencies are inferred from the claim text.