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Pedigree Analysis in Human Genetics
Human Heredity and Principles...
43
Biology
Undergraduate 3
03/15/2016

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Term
6 modes: the five basic mendelian patterns of inheritance for traits controlled by single genes are:
Definition
Autosomal recessive inheritance, autosomal dominant inheritance,
X-linked dominant inheritance,
X-linked recessive inheritance,
Y-linked inheritance
Mitochondrial genes are transmitted from mother to offspring
Term
Cystic Fibrosis
Definition
An often fatal recessive genetic disorder associated with abnormal secretions of the exocrine glands
Term
Autosomal recessive traits
Definition
Cystic Fibrosis is an autosomal recessive trait
Term
Autosomal Dominant trait
Definition
Marfan syndrome
Term
Marfan Syndrome
Definition
An autosomal dominant genetic disorder that affects the skeletal system, the cardiovascular system, and the eyes
Term
Sex-linked inheritance involves genes on the x and y chromosome
x-linked;
Definition
The pattern of inheritance that results from genes located on the x chromosome
Term
y- linked
Definition
The pattern of inheritance that results from genes located only on the Y chrommosome
Term
X-linked dominant traits
Hemizygous
Definition
A gene present on the x chromosome that is expressed in males in both the recessive and the dominant conditions.
Term
Color blindness
Definition
Defective color vision caused by reduction or absence of visual pigments. There are three forms: red, green, and blue blindness.
Term
Some forms of muscular dystrophy are x-linked recessive traits:
Muscular dystrophy
Definition
A group of genetic diseases associated with progressive degeneration of muscles. Two of these, Duchenne and Becker muscular dystrophy, are inherited as X-linked allelic recessive traits.
Term
Many factors can affect the outcome of pedigree analysis:
Definition
Huntington Disease
Penetrance
Expressivity
Camptodactyly
Term
Huntington disease
Definition
An autosomal dominant disorder associated with progressive neural degeneration and dementia. Adultonset is followed by death 10 to 15 years after symptoms appear.
Term
Penetrance
Definition
The probability that a disease phenotype will appear when a disease-related genotype is present
Term
Expressivity
Definition
The range of phenotypes resulting from a given genotype.
Term
Camptodactyly
Definition
A dominant human genetic trait that is expressed as immobile, bent; little fingers
Term
Autosomal Dominant traits characteristics of autosomal dominant traits;
Heterozygotes;
Definition
Have abnormal phenotype, every affected individual has at least one affected parent (except in traits with high mutation rates)
Term
characteristics of autosomal dominant traits;
Definition
From affected individual is heterozygous and has an unaffected mate, each child has a 50% chance of being affected.
Term
characteristics of autosomal dominant traits;
Definition
Two affected individuals can have an unaffected child, Usually an affected family member in each generation
Term
Sex linked inheritance
males (XY)
Definition
Males (XY)pass their x chromosomes to all of their daughters but none of their sons
Term
Sex linked inheritance
Females (XX)
Definition
Females (XX) pass an x chromosome to all of their children
Term
Sex linked inheritance
Males carrying (X)
Definition
Males carrying an (x) linked recessive allele express the recessive phenotype
Term
Pedigree Analysis;
Definition
is a basic method in human genetics.
Term
Mitochondrial;
Definition
Genes are transmitted from mother to offspring
Term
Characteristics of Autosomal recessive traits;
Definition
- Most affected individuals have unaffected parents
- The risk of and affected child with heterozygous parent is 25%
- The trait is expressed in both males and females
Term
Pedigree Analysis
Definition
A basic method in human genetics. Is a diagram showing genetic information from family, standardized symbols, analysis and mendelian principles with two goals
Term
Two goals of pedigree analysis
Definition
Determine whether the trade is dominant or recessive pattern of inheritance. Discover whether the gene in question is located on a (X) or a (Y) chromosome or autosome (chromosome 1 to 22)
Term
Pedigree analysis:
Definition
Rule out all patterns of inheritance that are inconsistent with the pedigree. If any one pattern of inheritance is supported by information in pedigree, it is accepted as pattern of inheritance
Term
How a trait is inherited;
Definition
Can be used to predict genetic risk in; pregnancy outcome, adult onset disorders, and reoccurence risk and future off-spring
Term
Five basic patterns of mendelian inheritance for traits controlled by a single gene are:
Definition
Also known as six modes; autosomal recessive inheritance- X- Linked dominant inheritance- X- linked recessive inheritance- Y- linked inheritance- mitochondrial genes
Term
Autosomal recessive traits;
Definition
Most affected individuals have normal parents- there is a 25% chance that a child of heterozygotes will be affected- both sexes are affected in equal numbers
Term
Cystic Fibrosis an Autosomal Recessive Trait;
Definition
1 in 25 Europeans, 1 in 46, Hispanics and, 1 in 65 African- American, 1 in 50 Asian Americans are cystic fibrosis carriers
Term
Cystic Fibrosis;
Definition
An often fatal recessive genetic disorder associated with abnormal secretions of the exocrine glands
Term
Mitochondria are:
Definition
Cytoplasmic organelles that convert energy from food molecules into ATP. A molecule that powers many cellular functions
Term
Mitochondria carry;
Definition
DNA molecules that encode information for some 37 mitochondria genes. Most mitochondria carry 5 to 10 of these DNA molecules. Each cell can contain hundreds to even 1000 mitochondria. (Red blood cells are an exception; they have none).
Term
Mitochondria are transmitted;
Definition
From mother to all their offspring through the cytoplasm of the eight. (Sperm lose all cytoplasm during maturation). As a result, genetic disorders resulting from you. Mutations in mitochondrial genes are maternally inherited
Term
Mitochondria in both males and females
Definition
Can be affected by mitochondrial disorders, but only females transmit mitochondria and any mutant genes they carry, producing a distinctive pattern of inheritance
Term
Genetic disorders in mitochondria
Definition
DNA are associated with defects in energy conversion
Term
Genes
Definition
have regular and consistent patterns of expressions
Term
Genes produce
Definition
A wide range of phenotypes. Some mutant genotype may be present, but remain unexpressed, resulting in a normal phenotype
Term
Variation in phenotype expression
Definition
Caused by a number of factors including, (A) interaction with other genes in the genotype. (B) interaction between genes and environment
Term
Large numbers of genes:
Definition
Act before birth, or early in development, the phenotypic expression of some genetic disorder is delayed until adulthood. Examples: Huntington disease and Porphia
Term
Huntington Disease;
Definition
Is first expressed between the ages of 30 and 50 years of age
Term
Porphyria:
Definition
Autosomal dominant disorder, is also expressed later in life. This disease is caused by the inability to correctly metabolize porhgrin, a chemical component of hemoglobin.
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