Genetic And Congential Disorders Flashcards
Marfan‘ s syndrome gene type
Autosomal dominant
Neurofibromatosis gene type
Autosomal dominant
Gene type of familial adenomatous polyposis (FAP)
Autosomal dominant
Gene type of hemophilia A
X-linked recessive
Significance of CHRPE “bear tracks”
Linked to familial adenomatous polyposis (FAP)
What is the primary risk of a deficiency of folic acid during early pregnancy
Neural tube defects
What mutation causes CHRPE bear tracks to be autosomal dominant vs autosomal recessive?
Can be autosomal recessive if there is a mutated MYH glycosylase gene (MUTYH), a DNA repair gene
Key characteristics of an autosomal dominant
- single mutated allele that is expressed if present
- transmitted from affected parent to an offspring regardless of sex
- chance of inherited in the disorder is 50%
- Disorders often involve structural proteins and usually appears later in life (CHRPE)
Key characteristics of autosomal recessive
- often looks like sex-linked, but shows in boys and girls equally
- expressed only when both autosomal alleles are affected
- requires homozygous
- both parents usually heterozygous
- chance of inheriting is 25%
- disorders often involve enzymes
Key characteristics of X-linked genetic condition
- most associated with X chromosome
- mostly recessive diseases
- females rarely affected
- passed from mother to son
- 50% chance of transmitting defective gene to sons, son has disease
- 50% chance of making daughters carriers
- affected fathers do not pass to their sons
Condition of having a diploid chromosome complement in which one (usually the X) chromosome lacks its homologous partner
Monosomy
Type of polysomal in which there are three instances of a particular chromosome, instead of the normal two. Type of aneuploidy
Trisomy
Chromosomal abnormality in which fetuses are born with an extra set of chromosomes in their cells. The three sets make it
Triploid (triploidy)
Chromosome abnormality caused by rearrangement of parts between nonhomologous chromosomes.
Translocation
Mutation in which a part of a chromosome or a sequence of DNA is lost during DNA replication
Deletion
