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Genetically Transmitted Disorders

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Genetically Transmitted Disorders

Introduction

Genetics originated in the mid-19th century when Gregor Mendel discovered over a ten year period of experimenting with pea plants that certain traits are inherited. His discoveries provided the foundation for the science of genetics.

Mendel's findings continue to spur the work and hopes of scientists to uncover the mystery behind how our genes work and what they can reveal to us about the possibility of having certain diseases and conditions. The scientific field of genetics can help families affected by genetic disorders to have a better understanding about heredity, what causes various genetic disorders to occur, and what possible prevention strategies can be used to decrease the incidence of genetic disorders (Pitman, 2002).

What is Heredity?

Why do children look like their parents? Why do brothers and sisters resemble each other? This is because we “inherent” traits from our parents. The passing of traits from parents to child is the basis of heredity. Traits are physical characteristics. Eye color, nose shape, and many other physical features are some of the traits that are inherited from parents (Kristine & Stewart, 2007).

What is genetics?

Genetics is the science that studies the mechanics of heredity, or the means by which traits are passed from parents to offspring. Through genetics a number of specific disorders have been identified as being genetically caused (ibid, 2007).

Dominant Inheritance

Dominant inheritance occurs when one parent has a dominant, disease-causing gene which causes abnormalities even if coupled with a healthy gene from the other parent. Dominant inheritance means that each child has a 50 percent chance of inheriting the disease-causing gene (http://specialed.freeyellow.com/YAdaptUse.html).

Recessive Inheritance

Parents of children with recessive genes are called "carriers" since each parent carries one copy of a disease gene. They show no symptoms of having a disease gene and remain unaware of having the gene until having an affected child
(http://specialed.freeyellow.com/YAdaptUse.html).

X-linked inheritance

X-linked or sex-linked inheritance affects those genes located on the X chromosome and can be either X-linked recessive or X-linked dominant.
(http://specialed.freeyellow.com/YAdaptUse.html)

Where exactly are our Traits?

Our genes encode the instructions that define our traits. Each of us has thousands of genes, which are made of DNA and reside in our chromosomes (Kristine & Stewart, 2007).

How do we get traits from our Parents?

• Chromosomes are the structures that hold our genes. Genes are the individual instructions that tell our bodies how to develop and keep our bodies running healthy. In every cell of our body there are 20,000 to 25,000* genes that are located on 46 chromosomes.

• Females have two X chromosomes in their cells, while males have one X and one Y chromosome. Human cells contain 23 pairs of chromosomes for a total of 46. There are 22 pairs of autosomes and one pair of sex chromosomes. The sex chromosomes are the X chromosome and the Y chromosome.

• A mother passes 23 chromosomes to her child through her egg and a father passes 23 chromosomes through his sperm. When the egg and the sperm join together at the time of conception, they form the first cell of the baby. The baby’s body cells now have 46 chromosomes, made up of 23 pairs, just like the parents.

• In humans and most other complex organisms, one copy of each chromosome is inherited from the female parent and the other from the male parent. In this way, parents pass genes to the child (The Basics on Genes and Genetic Disorders).

Human Chromosomes

The Creation of Human Being

The Process of Conception

Genetic Disorders

• Sex-Linked Disorders

SEX CROMOSOMES: contain genes that determine the sex of an individual. XX= female XY= male

• Autosomal Disorders

AUTOSOMES: any of the remaining chromosomes in an individual Humans have 22 pairs of autosomes

1. Fragile X Syndrome (Sex Linked)

• This is the most common genetic cause of mental retardation which is caused by the presence of a single non-working gene (called the FMR-1 gene) on a child’s X chromosome.
• FXS is the most common known cause of autism. Symptoms also can include delays in speech and language development (Carlgren & Reimer, 2006).

Normal and Fragile X Neuron

Results from a breakage of the tip of an X chromosome

2. Down’s Syndrome (Autosomal Disorder)

An extra chromosome is attached to the 21st pair. Risk increases with maternal age. Pregnancies of women over age 35 accounts for 20% of Down syndrome birth.

Down’s Syndrome or Trisomy 21

Symptoms of Down Syndrome

• Upward slant to eyes.
• Small ears that fold over at the top.
• Small, flattened nose.
• Small mouth, making tongue appears large.
• Short neck.
• Small hands with short fingers.
(http://www.babycenter.com.ph/baby/health/downssyndrome)

3. Klinefelter Syndrome (XXY) (Sex Linked)

• Occurs in about 1 of 1,000 males. It is caused by an extra X chromosome.

4. Superfemale Syndrome (XXX) (Sex Linked)

• Occurs in about 1 of 1,000 females. Women appear normal, but tend to score slightly below average in intelligence.

5. Supermale Syndrome (XYY) (Sex Linked)

• Occurs in about 1 0f 1,000 males. The men tend to be taller than average, with a greater incidence of acne and minor skeletal abnormalities.

6. Turner’s Syndrome (XO) (Sex Linked)

• Occurs in about 1 of 10,000 females. One of the X chromosomes is either missing or inactive. These women have immature female appearance, do not develop secondary sex characteristics, and lack internal reproductive organs.
(http://www.transtutors.com/homework-help/Biology/Chromosomes-Genetic-Disorder/turner-klinefetler-syndrome.aspx)

7. Hemophilia (Sex Linked

• Hemophilia is a hereditary bleeding disorder in which the ability of blood to clot is impaired.
• Caused by a recessive gene on the X chromosome.
• There are about 20,000 hemophilia patients in the United States.
• One can bleed to death with small cuts.
(www.hemophilia-information.com/hemophilia-genetics.html)

8. Sickle Cell Disease (Autosomal Disorder)

An inherited, chronic disease in which the red blood cells, normally disc-shaped, become crescent shaped. As a result, they function abnormally and cause small blood clots.

Symptoms

• Pain
• Fever
• Severe chest pain
• Fatigue
• Weakness
• Tissue damage
• Possible brain damage
• Possibly fatal

(http://www.nhlbi.nih.gov/health/dci/Diseases/Sca/SCA_WhatIs.html)

9. Cystic Fibrosis (Autosomal Disorder)

• A defect in a gene called the cystic fibrosis transmembrane conductance regulator (CFTR) gene. This gene makes a protein that controls the movement of salt and water in and out of the cells in your body. In people with cystic fibrosis, the gene does not work effectively. It affects the lungs, digestive system, sweat glands, and male fertility.

• Each of us inherits two CFTR genes, one from each parent. Children who inherit an abnormal CFTR gene from each parent will have cystic fibrosis. Children who inherit an abnormal CFTR gene from one parent and a normal CFTR gene from the other parent will not have cystic fibrosis. However, they will be cystic fibrosis carriers. (http://staffweb.psdschools.org/shunter/Bioweb/genetics/Genetics%20Part%20II/Human%20Genetic%20Disorders%2007.pdf)

10. Muscular Dystrophy (Sex Linked)

• Muscular dystrophy (MD) is a genetic disorder that gradually weakens the body's muscles because of a lack of a certain protein.

• It can be passed on by one or both parents, depending on the form of MD (therefore is autosomal dominant and recessive). It is inherited in an X-linked recessive pattern, meaning that the mutated gene that causes the disorder is located on the X chromosome.

• A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. The defective gene that causes muscular dystrophies is located on the X-chromosome. Women who have only one X-chromosome with the defective gene that causes these muscular dystrophies are carriers and develop muscle weakness. The disease can skip a generation until another son inherits the defective gene on the X-chromosome.
(http://kidshealth.org/parent/medical/bones/muscular_dystrophy.html)

11. Color Blindness (Sex Linked)

• Color blindness is the inability to see certain colors in the usual way. Color blindness occurs when there is a problem with the color-sensing materials (pigments) in certain nerve cells of the eye. These cells are called cones.

• Most color blindness is due to a genetic problem. (X-linked recessive) The most commonly found red-green color blindness is an X-linked defect. The red-green color blindness is carried in the X-chromosome and therefore is transmitted from the mother to children.
(http://staffweb.psdschools.org/shunter/Bioweb/genetics/Genetics%20Part%20II/Human%20Genetic%20Disorders%2007.pdf)

Hairy Ears (Sex Linked)

• Y-linked trait, which is rare.
• Symptoms…hairy ears.
(http://www.mun.ca/biology/scarr/Hairy_Ears.html)

12. Genetic Hearing Loss

Hereditary hearing loss can be transmitted in several inheritance patterns, including autosomal dominant, autosomal recessive, X-linked inheritance

• Dominant ~15%
• Recessive ~80%
• X-Linked ~2%

X-Linked

• With X-linked recessive inheritance, only boys are affected.
• Girls can be carriers of the gene. That means they could pass it on to their sons in the future.
• If a mother is a carrier of the hearing loss gene, her sons will have a 50% chance of having hearing loss.
• If a mother is a carrier of the hearing loss, none of her daughters will have hearing loss. But half of them will be carrier (Quinn et al., 2006).

Conclusion

We can conclude that genes are sections or segments of DNA that are carried on the chromosomes and determine specific human characteristics, such as height or hair color. Children inherit genetic or hereditary information by obtaining genes from each parent. There are three common types or modes of inheritance: dominant, recessive and X-linked (or sex-linked).

Through genetics a number of specific disorders have been identified as being genetically caused. Genetic disorders can be inherited in much the same way a person can inherit other characteristics such as eye and hair color, height and intelligence.

References

1. Genetic causes of mental retardation retrieved 23rd May, 2011 from http://specialed.freeyellow.com/YAdaptUse.html

2. Carlgren, M & Reimer (2006), “Fragile X Syndrome” retrieved 23rd May, 2011 from www.nwabr.org/.../studentwork/.../MU_BA_CarlgrenandTrimnell.doc

3. The Basics on Genes and Genetic Disorders retrieved 23rd May, 2011 from http://kidshealth.org/teen/your_body/health_basics/genes_genetic_disorders.html

4. Francis, B. Quinn, Jr., MD & Matthew W. R, MD (2006), “Genetic Hearing Loss” retrieved 23rd May, 2011 from www.utmb.edu/otoref/grnds/genetic-hl.../genetic-hl-2004-0317.doc

5. Hemophilia Genetics retrieved 23rd May, 2011 from http://www.hemophilia-information.com/hemophilia-genetics.html

6. Human Genetic disorders retrieved 23rd May, 2011 from http://staffweb.psdschools.org/shunter/Bioweb/genetics/Genetics%20Part%20II/Human%20Genetic%20Disorders%2007.pdf

7. Sean D. Pitman, S.D (2002), “The Father of Genetics” retrieved 23rd May, 2011 from http://www.detectingdesign.com/gregormendel.html

8. Kristine, A & Stewart, B. (2007), GENES AND CHROMOSOMES retrieved 23rd May, 2011 from http://www.genetics.edu.au/pdf/factsheets/fs01.pdf

9. Down syndrome retrieved 23rd May, 2011 from http://www.babycenter.com.ph/baby/health/downssyndrome/

10. Muscular Dystrophy retrieved 23rd May, 2011 from http://kidshealth.org/parent/medical/bones/muscular_dystrophy.html

11. Sickle Cell Disease retrieved 23rd May, 2011 from http://www.nhlbi.nih.gov/health/dci/Diseases/Sca/SCA_WhatIs.html

12. Hairy Ears retrieved 23rd May, 2011 from http://www.mun.ca/biology/scarr/Hairy_Ears.html

13. Klinefelter Syndrome, Superfemale Syndrome, Supermale Syndrome &Turner’s Syndrome retrieved 23rd May, 2011 from http://www.transtutors.com/homework-help/Biology/Chromosomes-Genetic-Disorder/turner-klinefetler-syndrome.aspx

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