3_Genetic Foundations of Development

what are gametes

reporductive sells/ sex cells

what is a zygote

fertilized egg that results from union of sperm & ovum

what is a gene

basic unit of genetic information

what are genes made of

DNA

what is the human genome

entire set of genetic instructions found in a cell

what are the part of the human genome

nucleus

nuclear DNA

23 chromosome pairs in a cell nuclei

mitochondria

• mitochondrial DNA

  • found in the cytoplasm

what are chromosomes

thread like structures

we have 23 pairs

how many chromosomes do sperm and eggs have

they have 23 chromosomes each NOT PAIRS

sex chromosomes

males are xy

females are xx

what is a genotype

a persons genetic material

what is a phenotype

charateristics or trait a person evenually has

• physical

• psychological

what are epigenetics

eviroment → gene expression → traits

what is the epigentic view

heredity and eviroment shape development

what is a dominant gene

expressed when pair with a recessive gene

what is a resessive gene

weaker gene that can be dominated

what is x-linked inheritance

mutated gene carried on x chromosome

what are carriers

someone who has the gene but has a regualr to cominsate like one x is fine the other is fucked

what is polygenics

interacton of many different genes + enviroment

types of genetic variations

chromosome variations

gene-linked variations

what is chromosome variations

structure- modification of a chromosome

number - too many or too few chromosomomes at conception

sex chromosome variation

natural errors in chromosome division during meisosis

what is Down syndrome

born with an extra 21 chromosome instead of 2

common type is trisomy 21

what is gene-linked variation

defective genes

permanent change in the DNA

can be inherited or occur during life

what is cystic fibrosis

glandular dysfunction that interfere with mucus production

imapct respiratory, digestive, and reproductive systems

most common fatal denetic disease

what gene is mutated for cystic fibrosis

cystic fibrosis transmembrane conductance regulator protein

how to get CF

must inherit two copies of CFTR gene

what is phenylketonuria (PKU)

child cant make use of phenylalanine, which is an essential AA found in proteins in milk and other foods

PKU allows for toxic build up

how to get PKU

both parents need to have the ressesive gene