Question

Elizabeth, age 27, had heard about the discovery of the gene and about the mutation linked to Jewish women. Her paternal grandmother had been diagnosed with breast cancer at age 51 and died two years later, and Elizabeth worried that she may have inherited a variant that would put her at increased risk.

She also worried about her mother, age 52 and apparently cancer-free so far, and her 7- year old daughter.

Her daughter is not allowed to participate in the screening, but Elizabeth convinces her mother to go with her to get tested.

For the screening, a small amount of blood is drawn. DNA is isolated from the blood, and part of the BRCA1 gene is amplified by PCR.

Submit a pedigree for each scenario:

SCENARIO A

Elizabeth - positive for 185delAG mutation

Mother - positive for 185delAG mutation

Unrelated Woman - positive for 5382insC mutation

SCENARIO B

Elizabeth - no mutations detected

Mother - positive for 185delAG mutation

Unrelated Woman - positive for 4184delTCAA mutation

SCENARIO C

Elizabeth - positive for 185delAG mutation

Mother - no mutations detected

Unrelated Woman - positive for 5382insC mutation

All the information given is needed to solve the pedigrees!

Symbols used in pedigree analysis Male Unaffected 10 5 Ⓡ Female Sex unspecified Diseased + 14 Multiple progeny K o Ø Deceased Consanguineous mating Mating line Generation 1 Sibship line Generation 11 1 1 k 2 Line of descent 2+ Individual number within generation

Answer 1

A pedigree chart displays a family tree, and shows the members of the family who are affected by a genetic trait.

# Pedosee analysis :- N X - No XP = Diseased ANNemo AD = Diseaser Normal Male comal Autosomal linked on Dominant Recessive Dominance Norma ANAN ANAN Malle ANAP Carre) Nomad femal x link Rcessive x Nu x Ny сүм XNXN ???? ocho xD ccarries)

ABAD ANAC? APAP Affected male ADAD AAP X XD C D Affected female ANAD yo po x xN Move - generahan I Marriage t o generahan I Number from I a 1 2 3 4

Scence on BRCAI test (185der AG). The (I). Elizabeth Positas I (2) Hermorkesd HE Scenario B BRCAI test TII (1) Elizabeth Negatie II (2) Her mother positie Scencerio c BRCAI test II (2) Her Mother Negatie in ) Euz cibe th> Fosince

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