Abstract: The invention relates to reagents and methods for improving the efficiency of multiplex nucleic acid amplification, in particular where overlapping amplicons are to be generated. The invention also relates to reagents and methods for improving the efficiency of multistep nucleic acid amplification, in particular the performance of two separate amplification reactions designed to occur in sequence in the same reaction mixture or vessel. The invention further relates to reagents and methods for improving multistep nucleic acid amplification reactions by controlling the output of the first amplification reaction. In particular, primers are provided that minimise the formation of aberrant amplification products. Such primers are particularly useful where first and second amplification reactions take place in a single reaction mixture or vessel.

Abstract: A method for estimating whether a female is pregnant, said method comprising measuring allele presences (D) for a plurality of genetic markers of at least one chromosome, different from the X and Y chromosome, in a sample of cell-free DNA from a potentially pregnant female; each allele presence representing the presence at a genetic marker of at least one of: a reference allele of maternal or foetal origin, and an alternative allele of maternal or foetal origin; based on said measured allele presences, determining a homozygous fraction (Fho) thereof which is associated with purely homozygous genetic markers; and estimating whether the female is pregnant based on said fraction.

Abstract: A method for estimating whether a female is pregnant, said method comprising measuring allele presences (D) for a plurality of genetic markers of at least one chromosome, different from the X and Y chromosome, in a sample of cell-free DNA from a potentially pregnant female; each allele presence representing the presence at a genetic marker of at least one of: a reference allele of maternal or foetal origin, and an alternative allele of maternal or foetal origin; based on said measured allele presences, determining a homozygous fraction (Fho) thereof which is associated with purely homozygous genetic markers; and estimating whether the female is pregnant based on said fraction.

Abstract: The invention relates to reagents and methods for improving the efficiency of multiplex nucleic acid amplification, in particular where overlapping amplicons are to be generated. The invention also relates to reagents and methods for improving the efficiency of multistep nucleic acid amplification, in particular the performance of two separate amplification reactions designed to occur in sequence in the same reaction mixture or vessel. The invention further relates to reagents and methods for improving multistep nucleic acid amplification reactions by controlling the output of the first amplification reaction. In particular, primers are provided that minimise the formation of aberrant amplification products. Such primers are particularly useful where first and second amplification reactions take place in a single reaction mixture or vessel.

Abstract: A method for estimating whether a female is pregnant, said method comprising measuring allele presences (D) for a plurality of genetic markers of at least one chromosome, different from the X and Y chromosome, in a sample of cell-free DNA from a potentially pregnant female; each allele presence representing the presence at a genetic marker of at least one of: a reference allele of maternal or foetal origin, and an alternative allele of maternal or foetal origin; based on said measured allele presences, determining a homozygous fraction (Fho) thereof which is associated with purely homozygous genetic markers; and estimating whether the female is pregnant based on said fraction.

Abstract: We previously identified 18q21.33-q23 as a candidate region for bipolar (BP) disorder and constructed a yeast artificial chromosome (YAC) contig map. In a next step we isolated and analysed all CAG/CTG repeats from this region and excluded them from involvement in BP disorder. Here, in the process of identifying all CCG/CGG repeats from the region, we isolated three potential CpG islands, one of which is located 1.5 kb upstream of a predicted exon of 3639 bp. Further analysis showed this was part of a novel CpG-associated, brain-expressed gene, that we called NCAGI (Novel CpG Associated Gene 1). Mutation analysis of this positional and functional candidate identified two single nucleotide polymorphisms, none of which were shown to be associated with the BP phenotype.