genetic disorders

• genes are a segment of DNA that carries information for making a polypeptide(protein)
• chromosomes are super condensed structure of DNA wrapped around histone proteins
• homologus pairs of chromosomes are exactly the same, same shape, same genes
• hapolid cells are sex cells such as the egg and sperm. They have half the chromosomes, 23
• diploid cell have full chromosomes, 46 and are in all cells in the body
• genetic diseases are caused by errors in the gentic code- mutations and abnormal chromosonal numbers
• mutations occur to the body cells for variety of reasons such as DNA damage, DNA replication and DNA repair mechanisms faulty
• nondisjunction is the failure of homologus chromosomes to seperate properly during meiosis
• types of nondisjunction are monosomy and trisomy
• monosomy refers to a missing chromosomes from the typical dipolid set. 1 instead of 2
• trisomy refers to an extra chromosomes. 3 instead of 2
• amniocentesis is a procedure a pregnant women can have in order to detect some genetic disorders
• amniocentesis is done by removing amniotic fluid and cells to test for genetic disorders
• amniocentesis is carried out between the 15th and 20th weeks of pregnancy
• autosomal dominant genetic diseases are diseases that occur in the present of a single mutant gene
• autosomal recessive genetic disease is a disease that occurs in the presence of 2 mutant recessive genes
• sex/x linked genetic diseases are diseases that occur due to a mutant gene on the sex chromosomes
• punnet squares can be used to calculate the probability of a genetic disorder