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CHROMOSAL DISORDERS xeeshan.pptx
- 1. CHROMOSOMAL DISORDERS & MODES OF INHERITANCE
- 45. Autosomal Dominant Disorders • achondroplasia • antithrombin III deficiency • Ehlers-Danlos syndrome • Gilbert's disease • hereditary haemorrhagic telangiectasia • hereditary elliptosis, hereditary spherocytosis • Huntington's disease • idiopathic hypoparathyroidism • intestinal polyposis • marble bone disease • Marfan's syndrome • neurofibromatosis • polycystic kidney disease (adult) • protein C deficiency • osteogenesis imperfecta • Treacher Collins syndrome • tuberous sclerosis • Von Willebrand's disease
- 80. THANK YOU
Editor's Notes
- Dominant is always expressed when present. Recessive is only expressed when no dominant genes are present. The main difference between autosomal and X-linked is that autosomal inheritance is the inheritance of traits that are determined by the genes in the autosome whereas X-linked inheritance is the inheritance of traits determined by the genes in one of the sex chromosomes
- our genes constitute only about 2% of our DNA. Most of the DNA in which we may be identical is noncoding DNA, not our genes. But even aside from that point, if all of us have 99.99% identical DNA, the other 0.01% still leaves more than 3 million base pairs in which we differ, which leaves a lot of room for human variation.
- Dominant is always expressed when present. Recessive is only expressed when no dominant genes are present.