We present the results of a study of the rate and origin of mutations in Duchenne muscular dystrophy (DMD). Depending on the type of mutation (deletion/duplication or point mutation) present in the patient, there are widely varying ratios of male to female mutation rates. In deletions, the male mutation rate is only 30% of the female one. In non-deletional/non-duplicational mutations (presumabl...

Introgressive hybridization is a widespread evolutionary phenomenon which may lead to increased allelic variation at selective neutral loci and to transfer of fitness-related traits to introgressed lineages. We inferred the population genetic structure of the European roe deer (Capreolus capreolus) in Poland from mitochondrial (CR and cyt b) and sex-linked markers (ZFX, SRY, DBY4 and DBY8). Ana...

OBJECTIVE Cell-free DNA from maternal plasma can be used for non-invasive prenatal testing for aneuploidies and single gene disorders, and also has applications as a biomarker for monitoring high-risk pregnancies, such as those at risk of pre-eclampsia. On average, the fractional cell-free fetal DNA concentration in plasma is approximately 15%, but can vary from less than 4% to greater than 30%...

BACKGROUND To review the possible mechanisms proposed to explain the etiology of 46, XX sex reversal by investigating the clinical characteristics and their relationships with chromosomal karyotype and the SRY(sex-determining region Y)gene. METHODS Five untreated 46, XX patients with SRY-positive were referred for infertility. Clinical data were collected, and Karyotype analysis of G-banding ...

The aim of this study was to test the accuracy of genotype diagnosis after pre-amplification of DNA extracted from biopsies obtained by microblade cutting of ovine embryos and to evaluate the viability of biopsied embryos after vitrification/warming and transfer to recipients. Sex and PrP genotypes were determined. Sex diagnosis was done by PCR amplification of ZFX/ZFY and SRY sequences after P...

The primary testis-determining function is exerted by a gene in the sex-determining region of the human Y chromosome. This gene is termed the sex-determining factor or TDF. A zinc finger gene, ZFY, residing in this region has been cloned and characterized. It is a candidate for TDF. A challenge to future molecular research is to clarify the function of a zinc finger gene on the X chromosome, ZF...

Morton and Short [MS] have established experimentally that two knots Kx and K2 may have the same 2-variable polynomial P(l,m) (see [FYHLMO], [LM]) while 2-cables on K\ and Ki can be distinguished by P. We prove here that if K\ and K2 are a mutant pair, then their 2-cables and doubles (and other satellites which are 2-stranded on the boundary of the mutating tangle) cannot be distinguished by P....