Genetic disorder

• MUTATION

  • Permanent change in the DNA
• MENDELIAN DISORDERS

  • TRANSMISSION PATTERNS OF SINGLE-GENE DISORDERS
• AUTOSOMAL DOMINANT DISORDERS

  Manifested in the heterozygous state – at least one parent of an index case is usually affected
• MARFAN SYNDROME

  Changes in skeleton, eyes, and cardiovascular system
• EHLERS-DANLOS SYNDROMES

  Comprise clinically and genetically heterogenous group of disorders

  Skin, ligaments, joints
• Group of 3 lysosomal storage diseases caused by deficiency of the enzyme — TAY-SACHS DISEASE
• NIEMANN-PICK DISEASE

  • Lysosomal accumulation of sphingomyelin due to inherited deficiency of sphingomyelinase
• GAUCHER DISEASE

  • Cluster of autosomal recessive disorders resulting from mutations in the gene encoding glucocerebrosidase
• TRISOMY 21 (DOWN SYNDROME)

  • Most common of the chromosomal disorders
• TRISOMY 21 (DOWN SYNDROME)

  • Flat facial profile, oblique palpebral fissures, and epicanthic folds
  • Approximately 40% have congenital heart disease
• TRISOMY 18 (EDWARDS SYNDROME)
• TRISOMY 13 (PATAU SYNDROME)
• KLINEFELTER SYNDROME

  • Male hypogonadism
  • Occurs when 2 or more X chromosomes and 1 or more Y chromosomes
• One of the most common causes of hypogonadism in males — KLINEFELTER SYNDROME
• TURNER SYNDROME

  • Results from complete or partial monosomy of the X chromosome
  • Hypogonadism in phenotypic females
• Most common sex chromosome abnormality in females — turner syndrome
• PCR analysis – involves synthesis of relatively short DNA fragments from a DNA template
• MOLECULAR ANALYSIS OF GENOMIC ALTERATIONS

  • Fluorescence in Situ Hybridization (FISH)
  • CytogenomicArrayTechnology
  • RNA Analysis
  • Next-Generation Sequencing