SlideShare a Scribd company logo
1 of 11
 Contents
 Genetic chromosomes
 Genes and DNA
 Protein synthesis
 Genetic pattern of inheritance
Genetic Chromosomes
 Genes are contained in
chromosomes, which are mainly in
the cell nucleus. A chromosome
contains hundreds to thousands of
genes. Every human cell contains
23 pairs of chromosomes, for a total
of 46 chromosomes. A trait is any
gene-determined characteristic and
is often determined by more than
one gene.
 Chromosomes are not visible in the cell’s nucleus—not even
under a microscope—when the cell is not dividing. However,
the DNA that makes up chromosomes becomes more tightly
packed during cell division and is then visible under a
microscope. Most of what researchers know about
chromosomes was learned by observing chromosomes
during cell division.
 Each chromosome has a constriction point called the
centromere, which divides the chromosome into two
sections, or “arms.” The short arm of the chromosome is
labeled the “p arm.” The long arm of the chromosome is
labeled the “q arm.” The location of the centromere on each
chromosome gives the chromosome its characteristic shape,
and can be used to help describe the location of specific
genes
 Genes & DNA
 A gene is the basic physical and functional unit of heredity.
Genes are made up of DNA. Some genes act as instruction
to make molecules called proteins. However, many genes
do not code for proteins. In humans, genes vary in size
from a few hundred DNA bases to more than 2 million
bases. The Human Genome Project estimated that
humans have between 20,000 and 25,000 genes.
 Every person has two copies of each gene, one inherited
from each parent. Most genes are the same in all people,
but a small number of genes (less than 1 percent of the
total) are slightly different between people. Alleles are
forms of the same gene with small differences in their
sequence of DNA bases. These small differences
contribute to each person’s unique physical features
 Protein Synthesis
 Protein synthesis is one of the most
fundamental biological processes by which
individual cells build their specific proteins.
Within the process are involved both DNA
(deoxyribonucleic acid) and different in their
function ribonucleic acids (RNA). The process
is initiated in the cell’s nucleus, where specific
enzymes unwind the needed section of DNA,
which makes the DNA in this region accessible
and a RNA copy can be made. This RNA
molecule then moves from the nucleus to the
cell cytoplasm, where the actual the process of
protein synthesis take place
PROTEIN
SYNTHESIS
Genetic pattern of inheritance
 It is important to understand the basic laws of inheritance to
appreciate how conditions are passed on in a family. An accurate
family health history is a valuable tool to illustrate how conditions
are passed down through generations.
For some conditions, family members with the same mutation may
not have the same symptoms. For other conditions, individuals with
different mutations can have similar characteristics. This is because
gene expression is influenced by genes, as well as by the
environment. Diseases caused by mutations in a single gene are
usually inherited in a simple pattern, depending on the location of
the gene and whether one or two normal copies of the gene are
needed. This is often referred to as Mendelian inheitance bacause
Gregor Mendel first observed these patterns in a garden pea plants.
Most single gene disorders are rare; but, in total, they affect millions
of people in the united states.
 Several basic models of inheritance exist for single gene disorders:
autosomal dominant, autosomal recessive, X- linked dominant, X-
linked recessive. However, not all genetic conditions will follow
these patterns, and other rare forms of inheritance such as
mitochondrial inheritance exist.
 Dominant mutations are expressed when only one copy of that
mutation is present. Therefore, anyone who inherits one dominant
disease mutation such as the mutation for Huntington’s disease will
have that disease. Dominantly inherited genetic disease tend to
occur in every generation of a family. Each affected person usually
has one affected parent. However, dominant mutations can also
happen in an individual for the first time, with no family history of the
condition.
 Recessive mutations require two mutated copies for diseases to
develop. Recessive genetic diseases are typically not seen in every
generation of an affected family. The parents of an affected person
are generally carriers; unaffected people who have a copy of a
mutated gene. If both parents are carriers of the same mutated
gene and both pass it to the child, the child will be affected.
Thank you…

More Related Content

What's hot

Catabolism of Phenylalanine and Tyrosine | Disorders Of Tyrosine Metabolism
Catabolism of Phenylalanine and Tyrosine | Disorders Of Tyrosine MetabolismCatabolism of Phenylalanine and Tyrosine | Disorders Of Tyrosine Metabolism
Catabolism of Phenylalanine and Tyrosine | Disorders Of Tyrosine Metabolismkiransharma204
 
Chemistry of nucleotides
Chemistry of nucleotidesChemistry of nucleotides
Chemistry of nucleotidesRamesh Gupta
 
Biosynthesis and degradation of porphyrin and heme
Biosynthesis and degradation of porphyrin and hemeBiosynthesis and degradation of porphyrin and heme
Biosynthesis and degradation of porphyrin and hemesountharya Sen s
 
BIOLOGICAL OXIDATION/ ETC/ OXIDATIVE PHOSPHORYLATION
BIOLOGICAL OXIDATION/ ETC/ OXIDATIVE PHOSPHORYLATIONBIOLOGICAL OXIDATION/ ETC/ OXIDATIVE PHOSPHORYLATION
BIOLOGICAL OXIDATION/ ETC/ OXIDATIVE PHOSPHORYLATIONYESANNA
 
DNA Replication -
DNA Replication -DNA Replication -
DNA Replication -Ashok Katta
 
Purine degradation
Purine degradationPurine degradation
Purine degradationsridevi244
 
Phenylalanine & tyrosine amino acid metabolism
Phenylalanine & tyrosine amino acid metabolismPhenylalanine & tyrosine amino acid metabolism
Phenylalanine & tyrosine amino acid metabolismDipesh Tamrakar
 
REPLICATION
REPLICATIONREPLICATION
REPLICATIONYESANNA
 
Metabolism of Purine & Pyrimidine nucleotide
Metabolism of Purine & Pyrimidine nucleotideMetabolism of Purine & Pyrimidine nucleotide
Metabolism of Purine & Pyrimidine nucleotideEneutron
 
Replication
ReplicationReplication
Replicationenamifat
 
DNA replication
DNA replicationDNA replication
DNA replicationEmaSushan
 
Therapeutic and diagnostic applications of enzymes isozymes and coenzymes
Therapeutic and diagnostic applications of enzymes isozymes and coenzymesTherapeutic and diagnostic applications of enzymes isozymes and coenzymes
Therapeutic and diagnostic applications of enzymes isozymes and coenzymesShubhrat Maheshwari
 

What's hot (20)

Catabolism of Phenylalanine and Tyrosine | Disorders Of Tyrosine Metabolism
Catabolism of Phenylalanine and Tyrosine | Disorders Of Tyrosine MetabolismCatabolism of Phenylalanine and Tyrosine | Disorders Of Tyrosine Metabolism
Catabolism of Phenylalanine and Tyrosine | Disorders Of Tyrosine Metabolism
 
RNA: Nature, type and Structure
RNA: Nature, type and StructureRNA: Nature, type and Structure
RNA: Nature, type and Structure
 
Chemistry of nucleotides
Chemistry of nucleotidesChemistry of nucleotides
Chemistry of nucleotides
 
Biosynthesis and degradation of porphyrin and heme
Biosynthesis and degradation of porphyrin and hemeBiosynthesis and degradation of porphyrin and heme
Biosynthesis and degradation of porphyrin and heme
 
Nucleotide Chemistry
Nucleotide ChemistryNucleotide Chemistry
Nucleotide Chemistry
 
BIOLOGICAL OXIDATION/ ETC/ OXIDATIVE PHOSPHORYLATION
BIOLOGICAL OXIDATION/ ETC/ OXIDATIVE PHOSPHORYLATIONBIOLOGICAL OXIDATION/ ETC/ OXIDATIVE PHOSPHORYLATION
BIOLOGICAL OXIDATION/ ETC/ OXIDATIVE PHOSPHORYLATION
 
Sex hormones
Sex hormonesSex hormones
Sex hormones
 
DNA Replication -
DNA Replication -DNA Replication -
DNA Replication -
 
Purine degradation
Purine degradationPurine degradation
Purine degradation
 
Neurotransmitters and its mechanism of action
Neurotransmitters and its mechanism of actionNeurotransmitters and its mechanism of action
Neurotransmitters and its mechanism of action
 
Phenylalanine & tyrosine amino acid metabolism
Phenylalanine & tyrosine amino acid metabolismPhenylalanine & tyrosine amino acid metabolism
Phenylalanine & tyrosine amino acid metabolism
 
Genome
GenomeGenome
Genome
 
TESTOSTERONE
TESTOSTERONETESTOSTERONE
TESTOSTERONE
 
REPLICATION
REPLICATIONREPLICATION
REPLICATION
 
Replication of DNA
 Replication of DNA Replication of DNA
Replication of DNA
 
Biosynthesis of catecholamines
Biosynthesis of catecholaminesBiosynthesis of catecholamines
Biosynthesis of catecholamines
 
Metabolism of Purine & Pyrimidine nucleotide
Metabolism of Purine & Pyrimidine nucleotideMetabolism of Purine & Pyrimidine nucleotide
Metabolism of Purine & Pyrimidine nucleotide
 
Replication
ReplicationReplication
Replication
 
DNA replication
DNA replicationDNA replication
DNA replication
 
Therapeutic and diagnostic applications of enzymes isozymes and coenzymes
Therapeutic and diagnostic applications of enzymes isozymes and coenzymesTherapeutic and diagnostic applications of enzymes isozymes and coenzymes
Therapeutic and diagnostic applications of enzymes isozymes and coenzymes
 

Similar to Genetic pattern of inheritance

Introduction to genetics.pptx
Introduction to genetics.pptxIntroduction to genetics.pptx
Introduction to genetics.pptxsachinshitole12
 
Basis of Genetic Inheritance
Basis of Genetic InheritanceBasis of Genetic Inheritance
Basis of Genetic InheritanceTean Zaheer
 
Genetic inheritance and chromosomal disorders
Genetic inheritance and chromosomal disordersGenetic inheritance and chromosomal disorders
Genetic inheritance and chromosomal disordersRakesh Verma
 
Pertemuan 1. introduction
Pertemuan 1. introductionPertemuan 1. introduction
Pertemuan 1. introductionSuryati Purba
 
Introduction to genetics and genes unlocking the secrets of heredity by noor ...
Introduction to genetics and genes unlocking the secrets of heredity by noor ...Introduction to genetics and genes unlocking the secrets of heredity by noor ...
Introduction to genetics and genes unlocking the secrets of heredity by noor ...Noor Zada
 
Genetics in psychobiology
Genetics in psychobiologyGenetics in psychobiology
Genetics in psychobiologyjasleenbrar03
 
Introduction to genetics
Introduction to geneticsIntroduction to genetics
Introduction to geneticsMayur Gaikar
 
Najaf bio 4 4 (2)
Najaf bio 4 4 (2)Najaf bio 4 4 (2)
Najaf bio 4 4 (2)mcnewbold
 
Genetics in orthodontics-sakthi
Genetics in orthodontics-sakthiGenetics in orthodontics-sakthi
Genetics in orthodontics-sakthiSakthi Priya
 
Genetics in orthodontics seminar 6
Genetics in orthodontics seminar 6Genetics in orthodontics seminar 6
Genetics in orthodontics seminar 6Ankita Rawat
 

Similar to Genetic pattern of inheritance (20)

Introduction to genetics.pptx
Introduction to genetics.pptxIntroduction to genetics.pptx
Introduction to genetics.pptx
 
Basis of Genetic Inheritance
Basis of Genetic InheritanceBasis of Genetic Inheritance
Basis of Genetic Inheritance
 
Genetic inheritance and chromosomal disorders
Genetic inheritance and chromosomal disordersGenetic inheritance and chromosomal disorders
Genetic inheritance and chromosomal disorders
 
Biology Finals Study Guide
Biology Finals Study GuideBiology Finals Study Guide
Biology Finals Study Guide
 
Pertemuan 1. introduction
Pertemuan 1. introductionPertemuan 1. introduction
Pertemuan 1. introduction
 
Genetics Biology
Genetics BiologyGenetics Biology
Genetics Biology
 
Concept and basics of genetics
Concept and basics of geneticsConcept and basics of genetics
Concept and basics of genetics
 
GENETICS BY ARAVINDHAN
GENETICS  BY ARAVINDHANGENETICS  BY ARAVINDHAN
GENETICS BY ARAVINDHAN
 
Introduction to genetics and genes unlocking the secrets of heredity by noor ...
Introduction to genetics and genes unlocking the secrets of heredity by noor ...Introduction to genetics and genes unlocking the secrets of heredity by noor ...
Introduction to genetics and genes unlocking the secrets of heredity by noor ...
 
Genetics in psychobiology
Genetics in psychobiologyGenetics in psychobiology
Genetics in psychobiology
 
Introduction to genetics
Introduction to geneticsIntroduction to genetics
Introduction to genetics
 
Genetics.pptx
Genetics.pptxGenetics.pptx
Genetics.pptx
 
Genetics.pptx
Genetics.pptxGenetics.pptx
Genetics.pptx
 
Pharmacogenetics
PharmacogeneticsPharmacogenetics
Pharmacogenetics
 
What is genetics
What is geneticsWhat is genetics
What is genetics
 
Najaf bio 4 4 (2)
Najaf bio 4 4 (2)Najaf bio 4 4 (2)
Najaf bio 4 4 (2)
 
Genetics in orthodontics-sakthi
Genetics in orthodontics-sakthiGenetics in orthodontics-sakthi
Genetics in orthodontics-sakthi
 
Basics of genetics
Basics of geneticsBasics of genetics
Basics of genetics
 
Genes and heredity for class 9th
Genes and heredity for class 9th Genes and heredity for class 9th
Genes and heredity for class 9th
 
Genetics in orthodontics seminar 6
Genetics in orthodontics seminar 6Genetics in orthodontics seminar 6
Genetics in orthodontics seminar 6
 

Recently uploaded

Green chemistry and Sustainable development.pptx
Green chemistry  and Sustainable development.pptxGreen chemistry  and Sustainable development.pptx
Green chemistry and Sustainable development.pptxRajatChauhan518211
 
Formation of low mass protostars and their circumstellar disks
Formation of low mass protostars and their circumstellar disksFormation of low mass protostars and their circumstellar disks
Formation of low mass protostars and their circumstellar disksSérgio Sacani
 
Biopesticide (2).pptx .This slides helps to know the different types of biop...
Biopesticide (2).pptx  .This slides helps to know the different types of biop...Biopesticide (2).pptx  .This slides helps to know the different types of biop...
Biopesticide (2).pptx .This slides helps to know the different types of biop...RohitNehra6
 
Stunning ➥8448380779▻ Call Girls In Panchshil Enclave Delhi NCR
Stunning ➥8448380779▻ Call Girls In Panchshil Enclave Delhi NCRStunning ➥8448380779▻ Call Girls In Panchshil Enclave Delhi NCR
Stunning ➥8448380779▻ Call Girls In Panchshil Enclave Delhi NCRDelhi Call girls
 
Unlocking the Potential: Deep dive into ocean of Ceramic Magnets.pptx
Unlocking  the Potential: Deep dive into ocean of Ceramic Magnets.pptxUnlocking  the Potential: Deep dive into ocean of Ceramic Magnets.pptx
Unlocking the Potential: Deep dive into ocean of Ceramic Magnets.pptxanandsmhk
 
Spermiogenesis or Spermateleosis or metamorphosis of spermatid
Spermiogenesis or Spermateleosis or metamorphosis of spermatidSpermiogenesis or Spermateleosis or metamorphosis of spermatid
Spermiogenesis or Spermateleosis or metamorphosis of spermatidSarthak Sekhar Mondal
 
Recombination DNA Technology (Nucleic Acid Hybridization )
Recombination DNA Technology (Nucleic Acid Hybridization )Recombination DNA Technology (Nucleic Acid Hybridization )
Recombination DNA Technology (Nucleic Acid Hybridization )aarthirajkumar25
 
GBSN - Biochemistry (Unit 1)
GBSN - Biochemistry (Unit 1)GBSN - Biochemistry (Unit 1)
GBSN - Biochemistry (Unit 1)Areesha Ahmad
 
9654467111 Call Girls In Raj Nagar Delhi Short 1500 Night 6000
9654467111 Call Girls In Raj Nagar Delhi Short 1500 Night 60009654467111 Call Girls In Raj Nagar Delhi Short 1500 Night 6000
9654467111 Call Girls In Raj Nagar Delhi Short 1500 Night 6000Sapana Sha
 
GFP in rDNA Technology (Biotechnology).pptx
GFP in rDNA Technology (Biotechnology).pptxGFP in rDNA Technology (Biotechnology).pptx
GFP in rDNA Technology (Biotechnology).pptxAleenaTreesaSaji
 
Presentation Vikram Lander by Vedansh Gupta.pptx
Presentation Vikram Lander by Vedansh Gupta.pptxPresentation Vikram Lander by Vedansh Gupta.pptx
Presentation Vikram Lander by Vedansh Gupta.pptxgindu3009
 
Hire 💕 9907093804 Hooghly Call Girls Service Call Girls Agency
Hire 💕 9907093804 Hooghly Call Girls Service Call Girls AgencyHire 💕 9907093804 Hooghly Call Girls Service Call Girls Agency
Hire 💕 9907093804 Hooghly Call Girls Service Call Girls AgencySheetal Arora
 
Botany krishna series 2nd semester Only Mcq type questions
Botany krishna series 2nd semester Only Mcq type questionsBotany krishna series 2nd semester Only Mcq type questions
Botany krishna series 2nd semester Only Mcq type questionsSumit Kumar yadav
 
Broad bean, Lima Bean, Jack bean, Ullucus.pptx
Broad bean, Lima Bean, Jack bean, Ullucus.pptxBroad bean, Lima Bean, Jack bean, Ullucus.pptx
Broad bean, Lima Bean, Jack bean, Ullucus.pptxjana861314
 
SOLUBLE PATTERN RECOGNITION RECEPTORS.pptx
SOLUBLE PATTERN RECOGNITION RECEPTORS.pptxSOLUBLE PATTERN RECOGNITION RECEPTORS.pptx
SOLUBLE PATTERN RECOGNITION RECEPTORS.pptxkessiyaTpeter
 
GBSN - Microbiology (Unit 1)
GBSN - Microbiology (Unit 1)GBSN - Microbiology (Unit 1)
GBSN - Microbiology (Unit 1)Areesha Ahmad
 
Chemistry 4th semester series (krishna).pdf
Chemistry 4th semester series (krishna).pdfChemistry 4th semester series (krishna).pdf
Chemistry 4th semester series (krishna).pdfSumit Kumar yadav
 
PossibleEoarcheanRecordsoftheGeomagneticFieldPreservedintheIsuaSupracrustalBe...
PossibleEoarcheanRecordsoftheGeomagneticFieldPreservedintheIsuaSupracrustalBe...PossibleEoarcheanRecordsoftheGeomagneticFieldPreservedintheIsuaSupracrustalBe...
PossibleEoarcheanRecordsoftheGeomagneticFieldPreservedintheIsuaSupracrustalBe...Sérgio Sacani
 

Recently uploaded (20)

Green chemistry and Sustainable development.pptx
Green chemistry  and Sustainable development.pptxGreen chemistry  and Sustainable development.pptx
Green chemistry and Sustainable development.pptx
 
Formation of low mass protostars and their circumstellar disks
Formation of low mass protostars and their circumstellar disksFormation of low mass protostars and their circumstellar disks
Formation of low mass protostars and their circumstellar disks
 
9953056974 Young Call Girls In Mahavir enclave Indian Quality Escort service
9953056974 Young Call Girls In Mahavir enclave Indian Quality Escort service9953056974 Young Call Girls In Mahavir enclave Indian Quality Escort service
9953056974 Young Call Girls In Mahavir enclave Indian Quality Escort service
 
Biopesticide (2).pptx .This slides helps to know the different types of biop...
Biopesticide (2).pptx  .This slides helps to know the different types of biop...Biopesticide (2).pptx  .This slides helps to know the different types of biop...
Biopesticide (2).pptx .This slides helps to know the different types of biop...
 
CELL -Structural and Functional unit of life.pdf
CELL -Structural and Functional unit of life.pdfCELL -Structural and Functional unit of life.pdf
CELL -Structural and Functional unit of life.pdf
 
Stunning ➥8448380779▻ Call Girls In Panchshil Enclave Delhi NCR
Stunning ➥8448380779▻ Call Girls In Panchshil Enclave Delhi NCRStunning ➥8448380779▻ Call Girls In Panchshil Enclave Delhi NCR
Stunning ➥8448380779▻ Call Girls In Panchshil Enclave Delhi NCR
 
Unlocking the Potential: Deep dive into ocean of Ceramic Magnets.pptx
Unlocking  the Potential: Deep dive into ocean of Ceramic Magnets.pptxUnlocking  the Potential: Deep dive into ocean of Ceramic Magnets.pptx
Unlocking the Potential: Deep dive into ocean of Ceramic Magnets.pptx
 
Spermiogenesis or Spermateleosis or metamorphosis of spermatid
Spermiogenesis or Spermateleosis or metamorphosis of spermatidSpermiogenesis or Spermateleosis or metamorphosis of spermatid
Spermiogenesis or Spermateleosis or metamorphosis of spermatid
 
Recombination DNA Technology (Nucleic Acid Hybridization )
Recombination DNA Technology (Nucleic Acid Hybridization )Recombination DNA Technology (Nucleic Acid Hybridization )
Recombination DNA Technology (Nucleic Acid Hybridization )
 
GBSN - Biochemistry (Unit 1)
GBSN - Biochemistry (Unit 1)GBSN - Biochemistry (Unit 1)
GBSN - Biochemistry (Unit 1)
 
9654467111 Call Girls In Raj Nagar Delhi Short 1500 Night 6000
9654467111 Call Girls In Raj Nagar Delhi Short 1500 Night 60009654467111 Call Girls In Raj Nagar Delhi Short 1500 Night 6000
9654467111 Call Girls In Raj Nagar Delhi Short 1500 Night 6000
 
GFP in rDNA Technology (Biotechnology).pptx
GFP in rDNA Technology (Biotechnology).pptxGFP in rDNA Technology (Biotechnology).pptx
GFP in rDNA Technology (Biotechnology).pptx
 
Presentation Vikram Lander by Vedansh Gupta.pptx
Presentation Vikram Lander by Vedansh Gupta.pptxPresentation Vikram Lander by Vedansh Gupta.pptx
Presentation Vikram Lander by Vedansh Gupta.pptx
 
Hire 💕 9907093804 Hooghly Call Girls Service Call Girls Agency
Hire 💕 9907093804 Hooghly Call Girls Service Call Girls AgencyHire 💕 9907093804 Hooghly Call Girls Service Call Girls Agency
Hire 💕 9907093804 Hooghly Call Girls Service Call Girls Agency
 
Botany krishna series 2nd semester Only Mcq type questions
Botany krishna series 2nd semester Only Mcq type questionsBotany krishna series 2nd semester Only Mcq type questions
Botany krishna series 2nd semester Only Mcq type questions
 
Broad bean, Lima Bean, Jack bean, Ullucus.pptx
Broad bean, Lima Bean, Jack bean, Ullucus.pptxBroad bean, Lima Bean, Jack bean, Ullucus.pptx
Broad bean, Lima Bean, Jack bean, Ullucus.pptx
 
SOLUBLE PATTERN RECOGNITION RECEPTORS.pptx
SOLUBLE PATTERN RECOGNITION RECEPTORS.pptxSOLUBLE PATTERN RECOGNITION RECEPTORS.pptx
SOLUBLE PATTERN RECOGNITION RECEPTORS.pptx
 
GBSN - Microbiology (Unit 1)
GBSN - Microbiology (Unit 1)GBSN - Microbiology (Unit 1)
GBSN - Microbiology (Unit 1)
 
Chemistry 4th semester series (krishna).pdf
Chemistry 4th semester series (krishna).pdfChemistry 4th semester series (krishna).pdf
Chemistry 4th semester series (krishna).pdf
 
PossibleEoarcheanRecordsoftheGeomagneticFieldPreservedintheIsuaSupracrustalBe...
PossibleEoarcheanRecordsoftheGeomagneticFieldPreservedintheIsuaSupracrustalBe...PossibleEoarcheanRecordsoftheGeomagneticFieldPreservedintheIsuaSupracrustalBe...
PossibleEoarcheanRecordsoftheGeomagneticFieldPreservedintheIsuaSupracrustalBe...
 

Genetic pattern of inheritance

  • 1.  Contents  Genetic chromosomes  Genes and DNA  Protein synthesis  Genetic pattern of inheritance
  • 2. Genetic Chromosomes  Genes are contained in chromosomes, which are mainly in the cell nucleus. A chromosome contains hundreds to thousands of genes. Every human cell contains 23 pairs of chromosomes, for a total of 46 chromosomes. A trait is any gene-determined characteristic and is often determined by more than one gene.
  • 3.  Chromosomes are not visible in the cell’s nucleus—not even under a microscope—when the cell is not dividing. However, the DNA that makes up chromosomes becomes more tightly packed during cell division and is then visible under a microscope. Most of what researchers know about chromosomes was learned by observing chromosomes during cell division.  Each chromosome has a constriction point called the centromere, which divides the chromosome into two sections, or “arms.” The short arm of the chromosome is labeled the “p arm.” The long arm of the chromosome is labeled the “q arm.” The location of the centromere on each chromosome gives the chromosome its characteristic shape, and can be used to help describe the location of specific genes
  • 4.  Genes & DNA  A gene is the basic physical and functional unit of heredity. Genes are made up of DNA. Some genes act as instruction to make molecules called proteins. However, many genes do not code for proteins. In humans, genes vary in size from a few hundred DNA bases to more than 2 million bases. The Human Genome Project estimated that humans have between 20,000 and 25,000 genes.  Every person has two copies of each gene, one inherited from each parent. Most genes are the same in all people, but a small number of genes (less than 1 percent of the total) are slightly different between people. Alleles are forms of the same gene with small differences in their sequence of DNA bases. These small differences contribute to each person’s unique physical features
  • 5.
  • 6.  Protein Synthesis  Protein synthesis is one of the most fundamental biological processes by which individual cells build their specific proteins. Within the process are involved both DNA (deoxyribonucleic acid) and different in their function ribonucleic acids (RNA). The process is initiated in the cell’s nucleus, where specific enzymes unwind the needed section of DNA, which makes the DNA in this region accessible and a RNA copy can be made. This RNA molecule then moves from the nucleus to the cell cytoplasm, where the actual the process of protein synthesis take place
  • 8. Genetic pattern of inheritance  It is important to understand the basic laws of inheritance to appreciate how conditions are passed on in a family. An accurate family health history is a valuable tool to illustrate how conditions are passed down through generations. For some conditions, family members with the same mutation may not have the same symptoms. For other conditions, individuals with different mutations can have similar characteristics. This is because gene expression is influenced by genes, as well as by the environment. Diseases caused by mutations in a single gene are usually inherited in a simple pattern, depending on the location of the gene and whether one or two normal copies of the gene are needed. This is often referred to as Mendelian inheitance bacause Gregor Mendel first observed these patterns in a garden pea plants. Most single gene disorders are rare; but, in total, they affect millions of people in the united states.
  • 9.  Several basic models of inheritance exist for single gene disorders: autosomal dominant, autosomal recessive, X- linked dominant, X- linked recessive. However, not all genetic conditions will follow these patterns, and other rare forms of inheritance such as mitochondrial inheritance exist.  Dominant mutations are expressed when only one copy of that mutation is present. Therefore, anyone who inherits one dominant disease mutation such as the mutation for Huntington’s disease will have that disease. Dominantly inherited genetic disease tend to occur in every generation of a family. Each affected person usually has one affected parent. However, dominant mutations can also happen in an individual for the first time, with no family history of the condition.  Recessive mutations require two mutated copies for diseases to develop. Recessive genetic diseases are typically not seen in every generation of an affected family. The parents of an affected person are generally carriers; unaffected people who have a copy of a mutated gene. If both parents are carriers of the same mutated gene and both pass it to the child, the child will be affected.
  • 10.