Patent ID: 7960111

Claim:
A method for diagnosing a predisposition for molar pregnancy in a human female subject, the method comprising detecting an alteration in the sequence of a NALP7 gene or the sequence of its mRNA or encoded polypeptide in a tissue sample from said subject relative to the sequence of a wild-type NALP7 gene or the sequence of its mRNA or encoded polypeptide, wherein said alteration is: a) a substitution of G with A at the splice donor site at the boundary of exon 3 and intron 3 (IVS3+1G>A); b) a substitution of G with A at the splice donor site at the boundary of exon 7 and intron 7 (IVS7+1G>A); c) a substitution of C with T corresponding to the first position of the codon for Arg 693 of the NALP7 polypeptide, resulting in a Arg to Trp substitution; d) a substitution of G with A corresponding to the second position of the codon for Cys 84 of the NALP7 polypeptide, resulting in a Cys to Tyr substitution; e) a substitution of G with A corresponding to the second position of the codon for Cys 399 of the NALP7 polypeptide, resulting in a Cys to Tyr substitution; f) a substitution of G with C corresponding to the third position of the codon for Lys 379 of the NALP7 polypeptide, resulting in a Lys to Asn substitution; g) a substitution of G with T corresponding to the first position of the codon for Glu 99 of the NALP7 polypeptide, resulting in a substitution for a stop codon; and/or h) a substitution of A with T corresponding to the second position of the codon for Asp 657 of the NALP7 polypeptide, resulting in a Asp to Val substitution wherein if the NALP7 polypeptide is used for detecting said alteration, said alteration is detected by sequencing of the NALP7 polypeptide, and wherein said alteration indicates that the subject has a predisposition for molar pregnancy.