genetics 2 Flashcards
how does studying inheritance help
- preventative treatment
- early intervention
- tracking disease in populations
- family planning
- fertility treatment
what did Karl Landsteiner discover and in what year
1900 - ABO blood groups
what did Archibald Garrod find and in what year
1902 - described alkaptonria as the first inborn error of metabolism
what did Wilhelm johannsen discover and in what year
1909- term gene to denote the basic unit of heredity
define a gene
discrete factor of inheritance
define an allele
different form of a gene
define a genotype
combination of alleles
define a phenotype
appearance of a trait
describe dominant
phenotype that suppresses another trait
describe recessive
phenotype that is suppressed by a dominant phenotype
what is mendels first law
- segregation
- each inherited trait is defined by a gene pair
what is mendels second law
- independent assortment
- genes for different traits are sorted separately so inheritance of one trait is not dependent on another
what is mendels third law
- dominance
- organisms with alternate forms of a gene present only dominant phenotypes
what is the characteristics of autosomal dominance
- affected person has a parent who is affected
- 50% offspring affected
- affects males and females equally
what is Huntington disease and the symptoms
- progressive brain disease
- autosomal dominant
adult onset - irritability/ depression , jerking or twitching, poor coordination, trouble learning and making decisions
juvenile - movement problems, mental and emotional changes, slurred speech and drooling, seizures and progresses quickly
what is Marfan syndrome and what are the symptoms
- autosomal dominant
- affects the connective tissue
symptoms - vision problems, aorta defects - bulge in the wall, arotic value to leak, tearing aorta layers
what are the characteristics of x-linked dominant
- 50% offering affected from mother
- no male offspring affected but all female offspring affected from father
what is fragile X syndrome and what are the symptoms
- x-linked dominant
- symptoms: learning disabilities, cognitive impairment, anxiety, hyperactive, attention disorder
- long and narrow face and large ears
what are the treatments for fragile X syndrome
special eduction, speech, occupational an sensory integration training and behavioural modification programs
what is cystic fibrosis and what are the treatments
- autosomal recessive
- build up of thick, sticky mucus
- medicines for lung problems
- exercise
- airway clearance techniques
- lung transplant
what is sickle cell anaemia and what are the symptoms
- autosomal recessive
- group of disorders affecting haemoglobin
symptoms: - sickle shaped red blood cells
- anaemia
- fatigue
- episodes of pain
- repeated infections
- shortness of breathe
- delayed growth/ development
what is tay-sacks disease and what are the symptoms
- progressive nerve cell degradation
- brain and spinal cord damage
symptoms: - 3-6 months old - slow development
- weakened muscles
- loss of motor skills
- startle reaction to loud noises
- red cherry spot in eye
what is haemophilia and what are the complications and treatments
- x-linked recessive
- slow blood clotting and prolonged bleeding following an injury
complications - bleeding in joints, muscles, brain and internal organs
treatment - artificial clotting factors
what are the two types of haemophilia and what are the deficiency’s
haemophilia A - factor VIII deficiency
haemophilia B - factor ix deficiency - Christmas disease
