Abstract: A method to identify women who are at risk for preterm delivery due to premature rupture of membranes (PPROM) is provided. The method entails detecting the presence of SERPINH1 gene variants that express low levels of the gene product, heat shock protein Hsp47. The occurrence of a T (rather than C) at a single nucleotide polymorphism (SNP) site at position ?656 of the SERPINH1 gene promoter, together with the absence of a 12 base pair deletion at positions ?694 to ?683 of the promoter, result in an increased risk of PPROM. The method enables medical professionals to identify those at risk, and to provide suitable therapeutic intervention.

Abstract: A method to identify women who are at risk for preterm delivery due to premature rupture of membranes (PPROM) is provided. The method entails detecting the presence of SERPINH1 gene variants that express low levels of the gene product, heat shock protein Hsp47. The occurrence of a T (rather than C) at a single nucleotide polymorphism (SNP) site at position ?656 of the SERPINH1 gene promoter, together with the absence of a 12 base pair deletion at positions ?694 to ?683 of the promoter, result in an increased risk of PPROM. The method enables medical professionals to identify those at risk, and to provide suitable therapeutic intervention.

Abstract: Method for diagnosis of congenital lipoid adrenal hyperplasia and for the detection of the presence of a mutated gene for steroidogenesis acute regulatory protein (StAR) by analyzing nucleic acid obtained from a patient. The nucleic acid can be analyzed by restriction fragment length polymorphism analysis, nucleic acid hybridization, or nucleotide sequencing, among other techniques. A mutation may result in premature termination of the protein, or it may result in the StAR gene not being transcribed or translated, or it may result in a change in the amino acid sequence of the StAR gene product.