Sökning: "Heterozygote Detection"

Hittade 2 avhandlingar innehållade orden Heterozygote Detection.

1. 1. Underlying genetic mechanisms of hereditary dystrophies in retina and cornea

   Författare :Jonsson Frida; Irina Golovleva; Carlo Rivolta; Umeå universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Cornea; retina; gene; mutation detection; inherited diseases; genetik; Genetics;

   Sammanfattning : Inherited retinal and corneal dystrophies represent a group of disorders with great genetic heterogeneity. Over 250 genes are associated with retinal diseases and 16 genes are causative of corneal dystrophies. LÄS MER

3. 2. Using Minisequencing Technology for Analysing Genetic Variation in DNA and RNA

   Författare :Mona Fredriksson; Ann-Christine Syvänen; Aarno Palotie; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Molecular medicine; microarray; minisequencing; molecular medicine; single nucleotide polymorphism; stem cell transplantation; whole genome amplification; allelic imbalance; alternative splicing; Molekylärmedicin; Molecular medicine genetics and pathology ; Molekylär medicin genetik och patologi ;

   Sammanfattning : In this thesis, the four-color fluorescence tag-microarray minisequencing system pioneered by our group was further developed and applied for analysing genetic variation in human DNA and RNA. A SNP marker panel representing different chromosomal regions was established and used for identification of informative SNP markers for monitoring chimerism after stem cell transplantation (SCT). LÄS MER