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Pedigree Analysis

Presentation on how to interpret and analyze pedigree charts

Pedigrees

Pedigree Symbols

Different symbols used in pedigree charting will be reviewed and identified.

Symbols

Male Symbol

Male symbol for pedigree charting

Male Symbol

Female Symbol

Female symbol for pedigree charting.

Female Symbol

Marriage Symbol

Marriage symbol for pedigree charting.

Marriage Symbol

Siblings Symbol

Siblings symbol for pedigree charting.

Siblings Symbol

Roman Numerals

Roman numerals for pedigree charting.

Roman Numerals

Adopted Symbol

Adopted symbol for pedigree charting.

Adopted Symbol

Deceased Symbol

Deceased symbol for pedigree charting.

Deceased Symbol

Twins Symbol

Twins symbol for pedigree charting.

Twins Symbol

Divorced Symbol

Divorced symbol for pedigree charting.

Divorced Symbol

Pregnancy Loss Symbol

Pregnancy loss symbol for pedigree charting.

Divorced Symbol

Mendelian Inheritance

Overview of Mendelian Inheritance

Mendelian Inheritance

Definition

"The manner by which genes and traits are passed from parents to their children. The modes of Mendelian inheritance are autosomal dominant, autosomal recessive, X-linked dominant, and X-linked recessive. Also known as classical or simple genetics."

https://www.medicinenet.com/script/main/art.asp?articlekey=13052

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Autosomal chromosomes

Overview of Autosomal Chromosomes

Autosomal chromosomes

Definition

"An autosome is any of the numbered chromosomes, as opposed to the sex chromosomes. Humans have 22 pairs of autosomes and one pair of sex chromosomes (the X and Y). Autosomes are numbered roughly in relation to their sizes. That is, Chromosome 1 has approximately 2,800 genes, while chromosome 22 has approximately 750 genes."

https://www.genome.gov/genetics-glossary/Autosome

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Hemizygous

Overview of hemizygous

Hemizygous

Definition

"Describes an individual who has only one member of a chromosome pair or chromosome segment rather than the usual two. Hemizygosity is often used to describe X-linked genes in males who have only one X chromosome. This term is sometimes used in somatic cell genetics where cancer cell lines are often hemizygous for certain alleles or chromosomal regions."

https://www.cancer.gov/publications/dictionaries/genetics-dictionary/def/hemizygous

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Allele

Overview of Allele

Allele

Definition

"An allele is one of two or more versions of a gene. An individual inherits two alleles for each gene, one from each parent. If the two alleles are the same, the individual is homozygous for that gene. If the alleles are different, the individual is heterozygous. Though the term allele was originally used to describe variation among genes, it now also refers to variation among non-coding DNA sequences."

https://www.genome.gov/genetics-glossary/Allele

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Analyzing Pedigrees

Analyzing

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

In pedigree analysis you need to look for any clues that will

allow you to decide if the trait is dominant or recessive and whether it is linked to an autosomal chromosome, or to the X chromosome.

In order to interpret a pedigree chart, it is important to first know the symbols used in the pedigree chart (reviewed earlier in the presentation).

"Determine whether the trait is dominant or recessive. If the trait is dominant, one of the parents must have the trait. Dominant traits will not skip a generation. If the trait is recessive, neither parent is required to have the trait since they can be heterozygous.

Determine if the chart shows an autosomal or sex-linked (usually X-linked) trait. For example, in X-linked recessive traits, males are much more commonly affected than females. In autosomal traits, both males and females are equally likely to be affected (usually in equal proportions).'

https://www.khanacademy.org/science/high-school-biology/hs-classical-genetics/hs-pedigrees/a/hs-pedigrees-review

Autosomal recessive

Autosomal recessive traits require two copies of the recessive allele to be expressed.

Autosomal recessive

Autosomal dominant

An autosomal dominant trait will result in the dominant phenotype if one or more copies of the dominant allele are present.

Autosomal dominant

X linked recessive

X-linked recessive traits are carried on the X chromosome. Because male offspring receive only one copy of the X chromosome, the trait is expressed phenotypically in all men with the X-linked recessive allele. Female offspring can also express an X-linked recessive trait although only if they inherit two X-linked chromosomes (one from each parent) containing the recessive allele.

X linked recessive

X linked dominant

This kind of inheritance is less common than X-linked recessive. It occurs when a dominant gene is carried on the X chromosome. Unlike X-linked recessive traits, only one copy of the dominant X-linked allele is required to result in the phenotype in both male and female offspring.

X linked dominant

Y linked

This is a rare type of inheritance, where the gene of interest is located on the Y-chromosome. Because, at most, one copy of the Y chromosome is inherited, dominant and recessive don’t really apply here.

Mitochondrial disorder

"Mitochondrial disease, or mitochondrial disorder, refers to a group of disorders that affect the mitochondria, which are tiny compartments that are present in almost every cell of the body. The mitochondria’s main function is to produce energy. More mitochondria are needed to make more energy, particularly in high-energy demand organs such as the heart, muscles, and brain. When the number or function of mitochondria in the cell are disrupted, less energy is produced and organ dysfunction results."

Depending on which cells within the body have disrupted mitochondria, different symptoms may occur.

https://www.chop.edu/conditions-diseases/mitochondrial-disease

Mitochondrial disorder

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