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| Description: Some Single-Gene Defects For Which Genetic Tests Are Available Disease Gene Mutation Description Achondroplasia FGFR3 gene. 99% of patients have a C to A point Abnormal bone growth mutation at nucleotide 1138 (G380R substitution) Hereditary breast/ovarian cancer BRCA1 and BRCA2 genes‘ Deletions, duplications, Predisposition to breast, ovarian, pros and point mutations tate, and other cancers Duchenne muscular dystrophy DMD gene. Point mutations, deletions, insertions, Early-onset progressive muscular weak- splicing mutations ness, heart disease Fragile-X syndrome FMR7 gene. Primarily expanded trinucleotide (CGG) Mental retardation, developmental repeats and loss offunction disorders Friedrich ataxia FXN gene. 98% ofcases have expanded trinucleotide Ataxia, muscle weakness, spasticity, heart (GAA) repeats in intron 1 and other organ dysfunctions Hemophilia A F8 gene. Point mutations, insertions, deletions, Factoerll blood-clotting defects, bleeding InverSIons Huntington disease HTT(HD) gene. Trinucleotide (CAG) repeat Midlife onset ofprogressive motor and expansions cognitive disorders Lesch-Nyhan syndrome HPRT7 gene‘ Point mutations, deletions, Developmental, motor, and cognitive duplications disorders Marfan syndrome FBN7 gene. Point mutations, splicing mutations, Connective tissue disorders afFecting deletions numerous organs Polycystic kidney disease, PKDT and PKDZ genes. Sequence variants, partial or Cysts in kidney, liver, and other organs, dominant whole»gene deletions and duplications vascular abnormalities Sickle—cell disease HBB gene. Point mutation leading to Glu to Val Early-onset anemia substitution at amino acid 6 Picture Stats: Views: 174 Filesize: 245.14kB Height: 903 Width: 1402 Source: https://biology-forums.com/index.php?action=gallery;sa=view;id=44045 |