F4.lmb (Bio Q)

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The term Genetics was introduced in 1906 by who?

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Bateson

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Science of coming into being

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Genetics

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The branch of biology that deals with heredity, especially the mechanisms of hereditary transmission and the variation of inherited characteristics among similar or related organisms

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Genetics

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branch of biological sciences which deals with the transmission of characteristics from parent to offspring.

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Genetics

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carries the genetic information in the body's cells

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DNA (deoxyribonucleic Acid)

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DNA is made up of four similar chemicals that are repeated over and over in pairs. What are those?

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Adenosine, Thymine, Cytosine, Guanine

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distinct portion of a cell's DNA.

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Gene

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pairs or series of genes on a chromosome that determine the hereditary characteristics

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Allele

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Produces a dominant phenotype in individuals who have one copy of the allele, which can come from just one parent.

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Dominant Allele

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produce a recessive phenotype, the individual must have two copies,one from each parent.

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Recessive Allele

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Phainein in phenotype means?

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To show

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Typos in phenotype means?

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Type

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composite of an organism's observable characteristics or traits, such as its morphology, development, biochemical or physiological properties, phenology, behavior, and products of behavior (such as a bird's nest).

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phenotype

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An organism in which 2 copies of genes are identical, i.e. have same alleles

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Homozygous

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means you carry two genes that are the same for each trait.

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Homozygous

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An organism which has different alleles of the gene

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Heterozygous

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means you carry two different genes for each trait

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Heterozygous

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Genes are packaged in bundles

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Chromosomes

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How many pairs of chromosomes does a human have?

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23 pairs

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This pair determines whether u r a male or female

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Sex chromosomes

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This pairs determine the rest of the body's makeup

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Autosomal chromosomes

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made up of DNA, RNA & proteins that make up chromosome

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Chromatin

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Where is chromatin located in the cell?

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Nucleus

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During this time of mitosis, chromatin fibers become coiled into chromosomes

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Prophase of mitosis

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the point where two chromatids attach

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Centromere

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group of molecules that when linked together, form the building blocks of DNA and RNA; composed of phosphate group, the bases: adenosine, cytosine, guanine and thymine and a pentose sugar. In case of RNA, thymine base is replaced by uracil.

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NUCLEOTIDE

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series of three adjacent bases in one polynucleotide chain of a DNA or RNA molecule which codes for a specific amino acid.

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CODON

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the sequence of nucleotides in a DNA or RNA molecule that determines the amino acid sequence in the synthesis of proteins.

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GENETIC CODE

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Diseases which are present at birth.

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Congenital Disease

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Diseases which are derived from one's parents and transmitted in the gametes through the generations.

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Hereditary / Familial Disease

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A permanent heritable change in a gene or chromosomal structure and are important in the causation of cancer and some congenital diseases.

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Mutation

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What are the causes of mutation?

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Chemicals, X -rays & ultraviolet light, and Certain viruses

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Types of Mutation

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Point Mutation, Deletion Mutation, Frameshift Mutations, and Trinucleotide Repeat Mutations

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Substitution of a single nucleotide base by a different base.

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Point Mutation

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Insertion or deletion of one or more base pairs alters the reading frame of the DNA strand.

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Deletion Mutations

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Deletion of one codon will cause?

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Cystic Fibrosis

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Deletion of 6 codons in the b-globin gene will result into?

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Variant Hemoglobin

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involve a deletion or insertion of one or two base pairs within a coding sequence of a gene.

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Frame Shift Mutations

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Duchenne muscular dystrophy are caused by?

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frame shift mutations in the dystrophin gene

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rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord

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Tay-Sachs disease

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triplets of nucleotides that are repeated in tandem many times over. The number of repeats varies in different individuals

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Trinucleotide Repeat Mutations

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Classification Of Genetic Diseases

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Single Gene Defects/ Mendelian Disorders

Disorders with Multifactorial or Polygenic inheritance

Cytogenetic Disorders

Disorders showing atypical patterns of inheritance.

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A genetic disease caused by a single mutation in the structure of DNA, which causes a single basic defect with pathologic consequences

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Single gene disorders / Mendelian Disorders

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According to the Patterns of Inheritance, single gene disorders are?

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Autosomal Dominant Disorder.

Autosomal Recessive Disorder.

X-Linked Recessive Disorder.

X-Linked Dominant Disorder.

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Affected individuals have one normal copy of the gene and one mutant copy of the gene, thus each offspring has a 50% chance on inheriting the mutant allele.

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Autosomal Dominant Disorders

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What are the Autosomal Dominant Conditions?

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Huntington Disease

Acondroplasia (short-limbed dwarfism)

polycystic kidneydisease

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Typical mating pattern is a heterozygous affected individual with a homozygous unaffected individual.

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Autosomal Dominant Disorders

Disorders

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genetic disorder that affects the body's connective tissue.

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Marfan's Syndrome

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When just one copy of the mutant allele is present, an individual is a carrier of the mutation, but does not develop the condition.

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Autosomal Recessive Disorders

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These are clinically manifest only when an individual has two copies of the mutant allele.

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Autosomal Recessive Disorders

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Typical mating pattern is two heterozygous unaffected(carrier) individuals.

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Autosomal Recessive Disorders

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The trait does not usually affect the parent, but siblings may show the disease

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Autosomal Recessive Disorders

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It is usually expressed only in males. Rarely, due to random X-inactivation, a female will express disease called?

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manifesting heterozygotes.

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Because the gene is located on the X chromosome, there is no transmission from father to son, but there can be transmission from father to daughter (all daughters of an affected male will be affected since the father has only one X chromosome to transmit).

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X-linked Dominant Disorder

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are clinically manifest when only one copy of the mutant allele is present.

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X-linked Dominant Disorder

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caused by a combination of environmental factors and mutations in multiple genes (genetic factor).

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Multifactorial inheritance disorders

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It may affect autosomes of sex chromosomes

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CytogeneticDisorders

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may result from structural or numeric abnormalities of chromosomes

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Cytogenetic Disorders

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Normal Chromosomal number is 46. What state is this?

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euploid state

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posession of more than two sets of homologous chromosomes. Chromosomal numbers like 3n or 4n. (Incompatible with life); generally results in spontaneous abortion

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Polyploidy

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Any Chromosomal number that is not an exact multiple of haploid number. E.g 47 or 45.

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Aneuploidy

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The resultant gamete will have either one less chromosome or one extra chromosome.

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Aneuploidy

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A person or a tissue that contains two or more types of genetically different cells.

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Mosaicism

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caused by an error in cell division very early in the development of the unborn baby.

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Mosaicism

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Usually result from chromosomal breakage, resulting in loss or rearrangement of genetic material.

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Structural Abnormalities

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when a part of one chromosome is transferred to another chromosome

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TRANSLOCATION

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segment from two different chromosomes have been exchanged

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reciprocal translocation

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The breaks occur close to the centromere, affecting the short arms of both choromosomes

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Centric fusion type or robertsoniantranslocation

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Result when one arm of a chromosome is lost and there maining arm is duplicated, resulting in a chromosome consisting of two short arms only or of two long arms.

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ISOCHROMOSOMES

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Loss of a portion of chromosome

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DELETION

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This can be terminal (close to the end of the chromosome on the long arm of the short arm), or it can be interstitial (within the long arm or the short arm).

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DELETION

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variant of deletion. It occurs when break occurs at both the ends of chromosome with fusion of the damaged ends.

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ring chromosome

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A portion of the chromosome has broken off, turned upside down and reattached, therefore genetic material is inverted.

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INVERSIONS

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An inversion is what when the inverted segment is on the long arm or the short arm

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paracentric

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The inversion is what when it breaks occur on both the short arm and the long arm

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pericentric

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A portion of a chromosome has broken off and formed a circle or ring . This can happen with or without loss of of genetic material

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Ring Chromosome

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chromosomal abnormality characterized by the presence of an extra copy of genetic material on the 21st chromosome

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Trisomy 21/Down's Syndrome

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caused by a meiotic nondisjunction (attach) event.

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Trisomy 21

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What are the other trisomy syndromes?

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Trisomy 18 : Edwards Syndrome.Trisomy 13: Patau Syndrome.

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seen frequently with Sex Chromosomes, with females having 4-5 extra X Chromosomes

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Extreme karyotypic variations

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Defined as Male Hypogonadism

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Klinefelter's Syndrome

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develops when there are at least two X chromosomes and one or more Y chromosomes.

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Klinefelter's Syndrome

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Results from partial or complete monosomy of the X chromosome.

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Turner Syndrome

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Primary hypogonadism in females

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Turner Syndrome

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Most common cause is absence of one X chromosome.

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Turner Syndrome