GENETICS QUESTION - 1976			L. PETERSON/AP BIOLOGY

Each year a number of children are born with biological defects that impair normal function. For THREE of the following conditions, discuss such aspects as the biological cause, the methods of treatment and possible means of detection and/or prevention.
	a. Phenylketonuria (PKU)
	b. Sickle cell anemia
 	c. Down syndrome
	d. Cretinism
	e. Erythroblastosis fetalis
	f. Blue-baby condition
	g. Tay-Sachs
 

STANDARDS:
  maximum of 5 points for each section discussed = 15

PHENYLKETONURIA (PKU)
Descriptive:  	mental retardation (1)
		light-colored hair, etc. (1/2)
Cause:		recessive (1/2)
		mutation (1/2)
		defect in amino acid metabolism (1)
		phenylalanine not converted to tyrosine (1/2)
		necessary enzyme lacking or ineffective (1/2)
		high phenylalanine or derivatives in mother's blood affects fetus (1/2)
		phenylalanine or derivatives excreted at high level (1)
  Treatment:	phenylalanine in diet restricted during childhood (1)
  Detection:	newborn's urine or blood tested (1/2)
  Prevention	for phenylalanine or derivatives (1/2)
		heterozygotes in adults detected by phenylalanine tolerance test (1)

SICKLE CELL ANEMIA
Descriptive:	common among sub-Sahara black populations & descendents (1/2)
		heterozygotes resistant to malarial infections (1/2)
		severe anemia (1/2)
		intense pain (1/2)
		shortened lifespan (1/2)
  Cause:	recessive (1/2)
		mutation (1/2)
		behaves as semidominant in heterozygotes (1/2)
		substituted amino acid (1)
		in beta chain of hemoglobin (1)
		valine for glutamic acid at position 6 (1)
		red blood cells have low efficiency in O2 transport (1)
		red blood cells sickle, tend to clog smaller vessels (1)
		red blood cells have shortened lifespan, resulting in anemia (1)
  Treatment:	transfusion of whole blood or packed cells (1)
		treatment of pain by drugs (1)
  Detection:	red blood cells examined under microscope for sickling (1)
		heterozygotes detected by simple blood test (1)


DOWN SYNDROME
Descriptive:	mental retardation (1)
		distinctive eyes (1/2)
		abnormal dermatoglyphics (1/2)
		thick tongue (1/2)
		shortened lifespan (1/2)
		low resistance to infection (1/2)
		possible derangement of internal organs (1/2)
  Cause:	trisomy 21 (1)
		extra chromosome (1/2)
		nondisjunction as explanation of trisomy (1/2)
		15/21 or other translocation (1/2)
		incidence of trisomy increases with age of mother (1)
  Treatment:	no known cure (1)
		custodial care (1/2)
		special training (1/2)
		surgery to correct internal derangements (1/2)
		antibiotics to combat infections (1/2)
  Detection:	amniocentesis (1/2)
  Prevention	karyotype examination (1/2)
		possible decision to abort if trisomy present (1/2)
		pedigree & karyotype studies in young mothers of Down 
		  syndrome children for translocation involvement (1/2)
		counseling of older women about risks (1/2)

CRETINISM
Descriptive:	mental retardation (1)
		growth retardation (1/2)
		low metabolic rate (1/2)
		yellow thick skin (1/2)
		distinctive eye structure (1/2)
  Cause:	mainly developmental (non-genetic) (1) 	
		hypothyroidism (emphasis on gland) (1)
		hypothyroidism (lack of sufficient thyroxin) (1)
		low iodine in diet (1)
		low TSH production by pituitary (1)
  Treatment:	thyroxin supplement (1)
  Detection:	metabolic rate measured (1)
  Prevention	protein-bound iodine test (PBI) (1)
 		presence of thyroxin in blood tested (1/2)
		adequate iodine in diet assured (1/2)













ERYTHROBLASTOSIS FETALIS
Descriptive:	lysis of red blood cells resulting in anemia (1/2)
		jaundice (1/2)
		physical malformation or edema (1/2)
Cause:	            depends on recessive homozygous genotype in mother (1)
		mutation (1/2)
		description of induction of antibodies in Rh- mother as a 
		 result of carrying Rh+ fetus or previous transfusion (1)
		description of interaction of maternal antibodies w/red blood 
		 cells of (usually) second or later fetus (1)
  Treatment:	replacement of newborn's blood supply (transfusion) (1)
		induction of early birth (1)
  Detection:	Rh+ antibody formation suppressed in mother after birth of Rh+  
  Prevention      fetus with Rhogam (gamma-globulin) (1)
		Rh+ antigen on red blood cells of parents tested (1)
		Rh+ antibody level monitored during pregnancy of mother (1)
		genetic counseling (1/2)

BLUE-BABY CONDITION
Descriptive:	cyanosis (1/2)
		resulting from lack of O2 to cells (1/2)
Cause:		mainly developmental (non-genetic) (1)
		failure of foramen ovale to close (1)
		other circulatory defects (ductus arteriosus, restriction in 
		 pulmonary artery) (1/2)
		mixture of oxygenated & unoxygenated blood (1)
		lungs bypassed (1/2)
Treatment:	surgery to close foramen ovale (1)
		to develop arterial shunt to pulmonary artery (1/2)
		temporary: increase oxygen tension (1)
Detection:	respiratory distress noted (1)
Prevention	cyanosis noted (1/2)
		abnormal heart sounds noted (1)
		O2 level monitored with cardiac catheter (1)

TAY-SACHS DISEASE
Descriptive:  	neural deterioration, loss of response (1)
		early death (4 years or younger) (1)
		mainly in descendents of East European Jewish populations (1/2)
Cause:		recessive (1/2)
		mutation (1/2)
		lack of essential enzyme (1)
		hexosaminidase A (1/2)
		accumulation of sphingolipids, etc. (1/2)
		as intracellular nerve inclusions (1)
		resulting in interference with normal nerve functions (1)
Treatment:	none known (1)
Detection:	enzyme level measured in potential parents to detect heterozygotes (1)
Prevention	amniocentesis of mothers (1)
		leading to enzyme assay (1/2)
		genetic counseling (1/2)
		possible decision to abort (1/2)	 	

     GENETICS QUESTION: 1983			L PETERSON/AP BIOLOGY

  State the conclusions reached by Mendel in his work on the inheritance of   
  characteristics. Explain how each of the following deviates from these conclusions:
	A. Autosomal linkage
	B. Sex-linked (X-linked) inheritance
	C. Polygenic (multiple-gene) inheritance


STANDARDS:
  maximum = 15 points total

  MENDEL (8 points maximum):
	DISCRETE UNITS
	2 FACTORS/TRAIT
	DOMINANT/RECESSIVE

	PUNNETT SQUARE:
	   GAMETES HAVE 1 FACTOR
	   EQUAL # GAMETES (EACH TYPE)
	   FACTORS SEGREGATE WHEN GAMETES FORM (SEGREGATION)
	   RANDOM DISTRIBUTION OF FACTORS (INDEPENDENT ASSORTMENT)
	USE OF PROBABILITY

  DEVIATIONS (12 points maximum):
	AUTOSOMAL LINKAGE:    DEFINITION (1)
			           EXAMPLE (1)
			           EXPECTED DEVIATION (1)
	SEX-LINKED:	           DEFINITION (1)
			           EXAMPLE (1)
			           EXPECTED DEVIATION (1)
	POLYGENIC:	           DEFINITION (1)
			           EXAMPLE (1)
			           EXPECTED DEVIATION (1)				 	
 


















     GENETICS QUESTION: 1988			L PETERSON/AP BIOLOGY
  
	Discuss Mendel's laws of segregation and independent assortment. 
  	Explain how the events of meiosis I account for the observations that 
  	led Mendel to formulate these laws.


STANDARDS:
  maximum = 10 points total (no more than 6 points for either part)

A. MENDEL'S LAWS

FACTORS (genes or alleles) in pairs / 2 alleles per trait (1)
FACTORS (alleles, genes)
   dominant or recessive; or (1)
   maternal + paternal origin; or (1)
   heterozygote has 2 types. (1)
EXAMPLES (A, a; green, yellow, Punnett square) or monohybrid cross (1)
FIRST LAW EXPLAINED: segregation of alleles into gametes (1)
SECOND LAW EXPLAINED: independent assortment; 
   each pair assorts independently of other pairs (1)
EXAMPLE of dihybrid cross (or Punnett square) (1)
ONLY OCCURS WITH UNLINKED GENES; CROSSOVER EXCEPTIONS (1)
							(max 6)		
B. MEIOSIS I

GAMETES FORMATION (reduction division for purpose of maintaining chromosome #) 
											(1)
GENES (traits, alleles) are on chromosomes (1)
HOMOLOGOUS CHROMOSOMES PAIR (dyad, bivalent, tetrad used in context) (1)
PAIRING OCCURS DURING PROPHASE I (1)
SYNAPSIS (synaptonemal complex, chiasmata) (1)
  may related chiasma to crossover
INDEPENDENT ASSORTMENT due to independent alignment at metaphase I (1)
PAIRS SEGREGATE AT ANAPHASE I (1)
DAUGHTER NUCLEI AFTER MEIOSIS I have one of each chromosome type
	        				 		(each 2 chromatids) (1)
	        			        (may relate to Punnett square)
PHASES OF MEIOSIS I: prophase, metaphase, anaphase, telophase - in correct order
  some description of each, for example:
	prophase     : organization
	metaphase   : line up at equator
	anaphase     : segregation
	telophase    : 2 "nuclei"			(1)
							 (max 6)









     GENETICS QUESTION: 1993			L PETERSON/AP BIOLOGY

	Assume that a particular genetic condition in a mammalian species causes an 
	inability to digest starch. this disorder occurs with equal frequency in males
	and females. In most cases, neither parent of affected offspring has the condition.

	(a)  Describe the most probable pattern of inheritance for this condition. 
	        Explain your reasoning. Include in your discussion a sample cross(es) 
	        sufficient to verify your proposed pattern.

	(b)  Explain how mutation could cause this inability to digest starch.

	(c)  Describe how modern techniques of molecular biology could be used to 
	        determine whether the mutant allele is present in a given individual.


STANDARDS:
	Students were expected to be able to describe the most likely pattern of inheritance based on an understanding of Mendelian genetics and the specific information given to them in the question. They needed to relate that understanding to molecular genetics in their explanation of mutations as the cause for the disorder. A variety of levels of understanding to molecular genetics in their explanation of mutation as the cause for disorder. A variety of levels of understanding of the effects of mutation were accepted as students could address the mutation as affecting DNA, transcription, translation, protein structure, or protein function. Students were also expected to demonstrate their understanding of modern techniques that could detect genetic disorders.

Part A (Maximum: 4 pts)

Most Plausible Pattern: 
__ autosomal (non-sex chromosome), not on X (sex-linked) or Y (holandric)
__ recessive (allele is hidden, silent or masked)

Explanation of Genetic Pattern:
__ equal frequency of condition in females and males
__ parents might not show the trait (can be heterozygous, hidden trait possible)
__ most likely a single gene is involved (only two phenotypes observed)
	eliminating a polygenic inheritance, etc.

Sample Cross:
__ Punnet Square, a sample cross or written explanation that substantiates their
      genetic pattern










Part B (Maximum: 5 pts)

Mutations:
__ gene codes for polypeptide (amylase)
__ mutations are changes in DNA or a gene
__ types of mutations (nucleotide, point or chromosomal and/or example:
      deletion, substitution, inversion, translocation, etc.)
__ mutations that affect transcription or RNA (RNA splicing, start signals, etc.)
__ mutations that affect translation (initiation, elongation, termination, frame shifts, 
      etc.)
__ mutations cause protein or enzyme structural changes:
	missing or altered (amino acid sequence or shape, active site)
__ mutations cause protein or enzyme functional changes:
	(production of a nonfunctional protein)
__ mutations cause structural changes that affect the release of the active enzyme
	(in cell membrane or gland)

Part C (Maximum: 4 pts)

Modern Molecular Biology Techniques:
__ feasible techniques in context (one point for each technique)
	DNA sequencing
	RFLP (markers) - restriction fragment length polymorphisms
	Monoclonal antibodies
	Flourescent or radioactive probes
	Hybridization (probe)
	Assay of protein (amount or type)
	PCR (Polymerase Chain Reaction) - to amplify the gene
__ explanation of technique (one point for each explanation)
__ measured as compared to standard (one point for each)




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