CYTO311: Cytogenetics

PROFESSOR: Pamela Sengson A.Y. 2022-2023

LECTURE: PEDIGREE

Pedigree Analysis Sibs

• Pedigree Reveals Patterns of Inheritance of • short for siblings
Human Traits • connected by a sibship line (horizontal)
Pedigree Analysis Monozygotic
• The traditional way to study inheritance has • for identical twins
been to construct a family tree, indicating the • diagonal lines are linked by a horizontal line
presence or absence of the trait in question
Dizygotic
for each member of each generation. Such a
family tree is called a pedigree. By analyzing a • for fraternal twins
pedigree, we may be able to predict how the • same as monozygotic but lacks a connecting
trait under study is inherited line
• Lineage of generations Proband
Pedigree Conventions
• individual whose phenotype first brought
• A pedigree chart displays a family tree and attention to the family
shows the members of the family who are • indicated by an arrow connected to the
affected by a genetic trait. designation fee
• Unaffected/normal phenotype – female • can be applied to either male or female
• Offspring – sibship line Pedigree Analysis
• Genetic disorder in proband individual, can be
termed as proposito/propositus if male, 1. autosomal dominant
female termed as proposita 2. autosomal recessive
• Patient zero 3. X-linked dominant
• Carrier heterozygous allele (recessive traits) 4. X-linked recessive trait
5. Y-linked trait
• 46 chromosomes, Autosomes: 22 pairs/44
autosome
• X/Y – sex chromosome
• X: X chromosome
• Y: only male
Autosomal Dominant Trait
• Can be male or
female
• A = affected
• a = unaffected
• AA= affected
• Aa= affected
• aa= unaffected
Autosomal Recessive Trait
• A = unaffected
• a = affected
Consanguineous • AA = unaffected
• The parents are related (first cousin) • aa = affected
• They are connected by a double line • Aa = carrier
(heterozygous allele)
KEDC.
 X-linked Dominant Trait
• XR XR = affected
• XR xr = affected
• xr xr = unaffected
• xR y = affected
• Xr y = unaffected
• Affected Male
Parent
= 100% affected daughters/female offspring
• Father affected • Online Mendelian Inheritance in Man
• Mother is normal Database
= Affected daughters and normal sons • Mendelian inheritance in Man → Dr. Victor
• Daughter = x from father, x from mother Wicky
• Son = x from mother, y from father • John Hopkins Univer
X-linked Recessive Trait • Autosomal Dominant before May 15, 1994

• xr xr = affected Number
• xR xr = carrier • 2 = autosomal recessive
• xR xR = unaffected • 3 = X-linked
• xR y = unaffedted • 4 = Y-linked
• xr y = affected • 5 = mitochondrial
• 6 = autosomal (after May 15, 1994)

Y-linked Trait
• Affected fathers → affected sons
• Normal father → normal sons
• Y = affected by the Y-link trait
• Y = unaffected father

KEDC.