GENETIC DISORDER PROJECT. GENETIC COUNSELOR Guides expecting parents through the chances of their child obtaining a genetic disorder Provides information.

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Presentation transcript:

GENETIC DISORDER PROJECT

GENETIC COUNSELOR Guides expecting parents through the chances of their child obtaining a genetic disorder Provides information about the disorder and guidance through raising a child with a particular disorder

AUTOSOMAL GENETIC DISORDERS Mutation found on an autosome chromosome Autosomes = all other chromosomes besides the 2 sex chromosomes Autosomal disorder can be either Dominant or Recessive Recessive (tt): A person must have both recessive alleles to have the disorder Dominant (TT or Tt): A person needs at least one dominant allele to have the disorder

AUTOSOMAL RECESSIVE T t AUTOSOMAL DOMINANT

X-LINKED GENETIC DISORDER Mutation found on the X chromosome (Which is one of the two possible sex chromosomes) REMEMBER: Males = 1 “X” chromosome and 1 “Y” chromosome Females = 2 “X” chromosomes

MALES ONLY HAVE ONE X They either have the disorder DEFECTIVE NORMAL They don’t OR

FEMALES HAVE TWO X CHROMOSOMES Females have one normal gene that works. NORMALDEFECTIVE Females need 2 defective recessive alleles to show the disorder

The X chromosome in males... flies WITHOUT a copilot!... there’s NO BACK UP X to help them!

1 Unaffected Female 1 Carrier Female 1 Unaffected Male 1 Affected Male What alleles would the parents have to have to produce an offspring that is an affected female?

Mutations that produce changes in a single gene = _________________ Mutations that produce changes in whole chromosomes = _____________________ KINDS OF MUTATIONS GENE MUTATIONS CHROMOSOMAL MUTATIONS Images from:

DELETION: mutation caused by a DNA sequence getting removed or deleted

DUPLICATION: mutation caused by a DNA sequence getting copied and added into the DNA strand

INVERSION: mutation caused by a DNA sequence looping, breaking off, and reattaching backwards

SUBSTITUTION: DNA sequence is replaced by another sequence

NON-DISJUNCTION Either the homologous chromosomes or sister chromosomes did not separate correctly during meiosis RESULTS: Extra copies of a chromosome in some daughter cells and missing copies in another.