Chapter 15 - Genetics and inheritance Flashcards

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1
Q

Allele

A

Alternate forms of a gene that occur at a given point in a chromosome

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2
Q

Co-dominance

A

when two different alleles both show up in the phenotype (immunoglobin A and B in blood groups)

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3
Q

recessive sex linked inheritance

A

Red-Green colour blindness, Hemophilia, Duchenne type of muscular dystrophy

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4
Q

Recessive autosomal inheritance examples

A

Cystic fibrosis, phenylketonuria (doesnt have enzyme to convert phenylalanine)

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5
Q

Dominant autosomal inheritance examples

A

Achondroplasia (dwarfism), huntingtons diease

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6
Q

DNA profile

A

pattern of bands from a persons DNA that is revealed from electrophoresis

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7
Q

genome

A

complete set of genetic information of an organism

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8
Q

hemizygous

A

having no allele counterpart, occurs with alleles in the X chromosome in males as they dont have an allele counterpart on the Y chromosome.

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9
Q

marker

A

segment of DNA with known characteristics, can be used to compare DNA profiles

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10
Q

pedigree

A

family tree

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11
Q

in terms of inheritance patterns. Genes

A

come in pairs, one from each parent

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12
Q

phenotype

A

physical appearance of an individual from the expression of alleles for that gene

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13
Q

severe genetic defects are rarely passed on to the next generation

A

often results in life threatening conditions that means die before reproductive age or cause severe diability so are too disabled to reproduce

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14
Q

huntingtons disease

A

symptoms of difficulty in voluntary movements and cognitive decline start at age 40 and gets worse

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15
Q

phenylketonuria

A

condition where body doesnt have the enzyme to convert phenylalanine amino acid into tyrosine, builds up to toxic levels in the body, causing mental retardation and seizures

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16
Q

sex linked characteristics

A

determined by the genes carried on the X chromosome.

17
Q

duchenne type of muscular distrophy

A

X linked recessive disorder that leads to progressive muscle weakness

18
Q

patterns in sex linked inheritance

A
  • mother is homozygous recessive then son will have the condition
  • daughter has trait then father also has the condition
19
Q

DNA profiling

A

analysis of specific regions of a persons DNA to distinguish people from one another

20
Q

electrophoresis

A

technique used to reveal DNA profiles in a banded pattern
1. treat DNA sample with restriction enzyme to make staggard cuts when it comes across a specific base sequence
2. elecrophoresis where DNA fragments are separated on their size - DNA is negatively charged as of phosphate group in the backbone so smaller DNA peices move faster.
3. results in a pattern of bands called a DNA profile

21
Q

DNA profile

A

pattern of bands revealed by the process of electrophoresis

22
Q

DNA profile in identifying hereditary diseases

A

presence of alleles that can increase individuals chance of inheriting certain cancers or can cause hereditary diseases like cystic fibrosis or huntingtons disease

23
Q

DNA profile is used to trace ancestory

A

compare DNA profiles to see common alleles present as parents will pass alleles on to their children so will have some of the same bands

24
Q

marker

A

DNA segment of a sequence of bases with known characteristics, used for comparison in genetic testing

25
Q

DNA profile for forensics

A

individuals DNA should have identical DNA to the sample for it to match

26
Q

DNA profiling can determine risk of having a child with genetic disorder

A

detect if parents are carriers of specific genes associated with disorders or if genetic conditions are present in the fetus