Open Access. Powered by Scholars. Published by Universities.®
Articles 1 - 2 of 2
Full-Text Articles in Life Sciences
A Study Of The Effects Of Consanguinity At The Genomic Level In Two Pakistani Bradaris, Sheena Sullivan
A Study Of The Effects Of Consanguinity At The Genomic Level In Two Pakistani Bradaris, Sheena Sullivan
Theses : Honours
The purpose of the project was to assess the effects of inbreeding on the genetic constitution of two Pakistani bradaris (literally defined as brotherhoods). Both bradaris contain children born to consanguineous (first cousin) and nonconsanguineous marriages. DNA samples have been supplied by Dr Subaib Ahmed of the Armed Forces Institute of Pathology in Rawalpindi, for a total of 91 individuals. The specific allele frequencies, and levels of homozygosity of each bradari, were determined using twenty fluorescence-labelled microsatellite markers for chromosomes 13 and 15. Amplification of the DNA was performed using the polymerase chain reaction (PCR). The PCR products were separated …
Localisation And Detection Of A Polymorphism In The Human Skeletal Beta-Tropomyosin Gene (Tpm2), Clive C.J. Hunt
Localisation And Detection Of A Polymorphism In The Human Skeletal Beta-Tropomyosin Gene (Tpm2), Clive C.J. Hunt
Theses : Honours
Tropomyosin is one of the components of the thin filaments of muscle, binding to actin, and, together with troponin, regulating contraction in a calcium-dependent manner (Cho et al.,1990). There are at least four distinct tropomyosin genes in vertebrates and each may encode at least six different isoforms of tropomyosin by alternate splicing (Novy et al, 1993; MacLeod et al., 1988). The alpha-tropomyosin gene TPM1 has recently been localised to 15q22 (Eyre et al, 1994) and has been shown to be mutated in some cases of familial hypertrophic cardiomyopathy (Thierfelder et al., 1994). The alpha-tropomyosin gene TPM3 has been recently localised …