Pedigree Charts. The family tree of genetics

Transcription

1 Pedigree Charts The family tree of genetics

2 Pedigree Charts I II III

3 What is a Pedigree? A pedigree is a chart of the genetic history of family over several generations. Scientists or a genetic counselor would find out about your family history and make this chart to analyze.

4 oon a pedigree: oa circle represents a female oa square represents a male oa horizontal line connecting a male and female represents a marriage oa vertical line and a bracket connect the parents to their children oa circle/square that is shaded means the person HAS the trait. oa circle/square that is not shaded means the person does not have the trait. ochildren are placed from oldest to youngest. oa key is given to explain what the trait is.

5 Constructing a Pedigree Female Male

6 Connecting Pedigree Symbols Examples of connected symbols: Fraternal twins Identical twins

7 Connecting Pedigree Symbols Examples of connected symbols: Married Couple Siblings

8 Marriage Male-DAD Female-MOM Has the trait Male-Son Female-daughter Female-daughter Male- Son Oldest to youngest

9 Example What does a pedigree chart look like?

10 Symbols Used in Drawing Male Non-identical twins Female Gender unknown A diagonal line through a symbol means a person is deceased Brackets around a symbol and a dashed line leading to it means a person is adopted 3 Identical twins To save space, you can sometimes write a number inside a symbol instead of drawing each symbol (e.g. three sisters) Pregnancy loss (i.e. miscarriage, stillbirth, elective abortion) P P P P stands for pregnancy mother carrying a male, female, or unknown gender

11 THE STEPS WHEN INTERPRETING A PEDIGREE CHART Determine if the pedigree chart shows an autosomal or X- linked disease. If most of the males in the pedigree are affected, then the disorder is X-linked If it is a 50/50 ratio between men and women the disorder is autosomal.

12 INTERPRETING A PEDIGREE CHART Determine whether the disorder is dominant or recessive. If the disorder is dominant, one of the parents must have the disorder. If the disorder is recessive, neither parent has to have the disorder because they can be heterozygous.

13 Pedigree showing transmission and expression of a mitochondrial trait. Note that transmission occurs only through females.

14 Rules of Inheritance Autosomal Recessive Appears in both sexes with equal frequency Trait tend to skip generations Affected offspring are usually born to unaffected parents When both parents are hetrozygout, approx. 1/4 of the progeny will be affected Appears more frequently among the children of consanguine marriages

15 Rules of Inheritance Autosomal Dominant Appears in both sexes with equal frequency Both sexes transmit the trait to their offspring Does not skip generations Affected offspring must have an affected parent unless they posses a new mutation When one parent is affected (het.) and the other parent is unaffected, approx. 1/2 of the offspring will be affected Unaffected parents do not transmit the trait

16 Rules of Inheritance X-Linked Dominant Both males and females are affected; often more females than males are affected Does not skip generations. Affected sons must have an affected mother; affected daughters must have either an affected mother or an affected father Affected fathers will pass the trait on to all their daughters Affected mothers if heterozygous will pass the trait on to 1/2 of their sons and 1/2 of their daughters

17 Rules of Inheritance X-Linked Recessive More males than females are affected Affected sons are usually born to unaffected mothers, thus the trait skips generations Approximately 1/2 of carrier mothers sons are affected It is never passed from father to son All daughters of affected fathers are carriers

18 Rules of Inheritance Y-Linked Dominant Only males are affected It is passed from father to all sons It does not skip generations Mitochondrial Trait is inherited from mother only All children of a mother are at risk to be affected or carriers

19 Ex: determine the pattern of inheritance shown in each pedigree.

20 Example 1 X-linked recessive Hemophilia Only males are affected and sons do not share the phenotype of their father - Thus X-linked Expression of hemophilia skips generations: RECESSIVE

21 Example 2 X-Linked Dominant Every Generation: Dominant Father passes on to only daughters Mothers passes on to 1/2 of offspring

22 Skip generations Example 3 Autosomal Recessive Affected individual from unaffected parents

23 Example 4 Autosomal recessive Expressed in both sexes at approximately equal frequency: AUTOSOMAL Not expressed Autosomal Recessive in every generation: RECESSIVE

24 Example 5 Autosomal Dominant In every generation: DOMINANT Equal in Males and Females:

25 Example 6 Autosomal Dominant Appears equally In both sexes so autosomal In every generation so

26 Example 7 Y-Linked Only males are affected All sons of affected father

27 Example 8 X-Linked Dominant Every generation: DOMINANT Daughters of affected males are affected Half offspring from mothers should get it

28 Example 9 Autosomal Dominant In every generation: DOMINANT Both Male and female affected:

29 Example 10 Mitochondrial All children at risk Father doesn t pass it along to any children

30 Example 11 Autosomal Recessive Consanguinity

31 Example 12 Mitochondrial Inheritance

32 Example 13 Autosomal dominant In every generation: DOMINANT In males and females: Autosomal

33 Example 14 Mitochondrial Inheritance Fathers don t transmit, just mothers

34 Example 15 X-linked Recessive