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Grade 10-11 (age 15-17)

high school Human Genetics

Unlike peas, people cannot be crossed at will, so inheritance is worked out from pedigrees, charts of a trait across several generations of a family. Where a pattern shows up in the pedigree depends on whether the gene is on an autosome or on the X chromosome, and whether the trait is dominant or recessive. If two unaffected parents have an affected child, the trait is recessive, and X-linked recessive traits show up more often in males, who have only one X chromosome. The diagram steps through three cases, autosomal dominant, autosomal recessive and X-linked recessive, showing the genotypes of the parents and children and the share of children who show the trait.

Why Human Inheritance Is Hard to Study

👨‍👩‍👧‍👦 Features of Human Inheritance
①People cannot be crossed experimentally, generations are long and families are small, so inheritance is studied through pedigrees and twin studies
②Humans have 22 pairs of autosomes and one pair of sex chromosomes (XX in females, XY in males), and a gene is inherited differently depending on which kind it sits on
③Traits such as height and skin color, shaped by many genes together with the environment, vary continuously

Pedigree Analysis

Autosomal dominant
💡 What to Look for in the Three Pedigrees
①Autosomal dominant (Aa × aa): half of the children of an affected parent are affected, with no difference between the sexes
②Autosomal recessive (Aa × Aa): even when both parents are unaffected carriers, a quarter of the children are affected, and the chance rises when close relatives marry
③X-linked recessive (XᴬY × XᴬXᵃ): sons get their only X from the mother, so half of the sons are affected; daughters get Xᴬ from the father and are not affected, but half of them are carriers

Comparing Inheritance Patterns

Inheritance Patterns

Autosomal vs X-Linked Inheritance
ItemAutosomal DominantAutosomal RecessiveX-linked recessive
Gene locationautosomeautosomeX chromosome
Shows up whenone A is enoughaa (homozygous recessive)XᵃY (male) or XᵃXᵃ (female)
Sex differencenonenoneshows up more often in males
ExamplesHuntington's disease, polydactylyalbinism, sickle cell anemiared-green color blindness, hemophilia

Other Patterns of Human Inheritance

Inheritance Types

Patterns of Human Inheritance

Worked Examples

Example 1
A father with blood type A (genotype IA i) and a mother with blood type B (genotype IB i) have children. List every blood type the children could have.
1
The father's gametes carry IA or i, and the mother's carry IB or i.
2
Fertilization gives IA IB (AB), IA i (A), IB i (B) and ii (O), each with probability 1/4.
▸ all four: A, B, AB and O
When each parent carries one i, type A and type B parents can still have a type O (ii) child. When IA and IB occur together, both show, giving type AB.
Example 2
A mother who carries red-green color blindness (X-linked recessive), XA Xa, and an unaffected father, XA Y, have children. What is the chance of color blindness in their sons, and in their daughters?
1
Daughters always get XA from the father, so they are XA XA or XA Xa and none is color blind.
2
Sons get Y from the father and an X from the mother, so XA Y (unaffected) and Xa Y (color blind) each have probability 1/2.
▸ sons 1/2, daughters 0
These are the same parents as in the X-linked recessive pedigree. Half of the sons are affected, and the daughters, though unaffected, are carriers half the time, so the trait can reappear in their sons.

Summary

Reading a Pedigree
both parents unaffected but a child affected → recessive / both parents affected but a child unaffected → dominant
sort out dominant or recessive first, then autosomal or X-linked
Testing for X-Linked Recessive
every son of an affected mother is affected / the father of an affected daughter is always affected
if even one person breaks these rules, the trait is not X-linked recessive
CSAT-style problem, adapted
A mother who carries red-green color blindness (XA Xa) and a color-blind father (Xa Y) have a child. What is the probability that the child is color blind?
①0
②14
③12
④34
⑤1
▸ ③ 12
1
Daughters get Xa from the father, so they are XA Xa (carrier) or Xa Xa (color blind): half of the daughters are color blind. Sons are XA Y (unaffected) or Xa Y (color blind): half of the sons are color blind.
2
Half of the sons and half of the daughters are color blind, so the probability for any child is also 1/2.
🎯 Exam Points
①In pedigree analysis, decide dominant or recessive first, then autosomal or X-linked
②If unaffected parents have an affected child, the trait is recessive, and for an autosomal recessive trait both parents are Aa
③For an X-linked recessive trait, half of a carrier mother's sons are affected
④ABO blood type has the alleles Iᴬ and Iᴮ (codominant) and i (recessive), giving 6 genotypes and 4 phenotypes
⑤Polygenic traits vary continuously and are strongly affected by the environment

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