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    A Simple Guide to Genetic Diseases
    A Simple Guide to Genetic Diseases
    A Simple Guide to Genetic Diseases
    Ebook39 pages28 minutes

    A Simple Guide to Genetic Diseases

    By Kenneth Kee

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    About this ebook

    A genetic disease is a disease caused by a abnormal form of a gene called a variation or a change of a gene called a mutation.

    Genetic disorders can be caused
    1. by a mutation in one gene (monogenetic disorder)

    Monogenetic disorders are relatively rare and are caused by a mutation in a single gene.

    The mutation may be present on one or both chromosomes (one chromosome inherited from each parent).
    Examples of monogenic disorders are: sickle cell disease, cystic fibrosis, polycystic kidney disease, and Tay-Sachs disease.

    A mutated gene can be inherited through a family.

    Each generation of children can inherit the gene that causes the disease.

    Monogenic disorders can be:
    a. Dominant diseases are caused by the presence of the disease gene on just one of the two inherited parental chromosomes.
    In dominant diseases, the chance of a child inheriting the disease is 50 percent.

    In a family situation, for example, if the parents have four children, it may be possible that two of those children inherit the disease gene.
    Examples of dominant diseases are Huntington's chorea and Marfan syndrome.

    b. Recessive diseases require the presence of the disease gene on both of the inherited parental chromosomes.

    In this case, the chance of a child inheriting a recessive disease is 25 percent.
    In the family example, if the parents have four children, it may be more likely that only one child will develop the disease. Examples of recessive diseases include cystic fibrosis and Tay-Sachs disease.

    2. by mutations in multiple genes (multifactorial inheritance disorder)

    Most genetic disorders, however, are "multifactorial inheritance disorders," meaning they are caused by a combination of inherited mutations in multiple genes, often acting together with environmental factors.

    Behaviors are also multifactorial, involving multiple genes that are affected by a variety of other factors.

    Researchers are learning more about the genetic contribution to behavioral disorders such as alcoholism, obesity, mental illness and Alzheimer's disease.

    3. by a combination of gene mutations and environmental factors

    Multifactorial inheritance disorders are caused by a combination of small inherited variations in genes, often acting together with environmental factors.

    Heart disease, diabetes, and most cancers are examples of such disorders.

    4. by damage to chromosomes (changes in the number or structure of entire chromosomes, the structures that carry genes)

    Chromosome disorders are caused by an excess or deficiency of the genes that are located on chromosomes, or by structural changes within chromosomes.

    In Down syndrome there is an extra copy of chromosome 21. (called trisomy 21), although no individual gene on the chromosome is abnormal.

    A specific form of blood cancer (chronic myeloid leukemia, CML) may be caused by a chromosomal translocation, in which portions of two chromosomes (chromosomes 9 and 22) are exchanged.

    Nearly all diseases have a genetic component.

    Some diseases are caused by mutations that are inherited from the parents like sickle cell disease.

    Other diseases are caused by acquired mutations in a gene or group of genes that occur during a person's life.

    Such mutations are not inherited from a parent, but occur either randomly or due to some environmental exposure (such as cigarette smoke). These include many cancers, as well as some forms of neurofibromatosis.

    Rarely, one of these monogenic diseases can occur spontaneously in a child when his/her parents do not have the disease gene, or there is no history of the disease in the family.

    This can result from a new mutation occurring in the egg or sperm that gave rise to that child.

    TABLE OF CONTENT

    Genetic Diseases

    Chapter 1 Down’s Syndrome

    Chapter 2 G6PD Deficiency

    Chapter 3 Hemophilia

    Chap

    LanguageEnglish
    PublisherKenneth Kee
    Release dateNov 12, 2012
    ISBN9781301203130
    A Simple Guide to Genetic Diseases
    Author

    Kenneth Kee

    Medical doctor since 1972.Started Kee Clinic in 1974 at 15 Holland Dr #03-102, relocated to 36 Holland Dr #01-10 in 2009.Did my M.Sc (Health Management ) in 1991 and Ph.D (Healthcare Administration) in 1993.Dr Kenneth Kee is still working as a family doctor at the age of 74However he has reduced his consultation hours to 3 hours in the morning and 2 hours inthe afternoon.He first started writing free blogs on medical disorders seen in the clinic in 2007 on http://kennethkee.blogspot.com.His purpose in writing these simple guides was for the health education of his patients which is also his dissertation for his Ph.D (Healthcare Administration). He then wrote an autobiography account of his journey as a medical student to family doctor on his other blog http://afamilydoctorstale.blogspot.comThis autobiography account “A Family Doctor’s Tale” was combined with his early “A Simple Guide to Medical Disorders” into a new Wordpress Blog “A Family Doctor’s Tale” on http://ken-med.com.From which many free articles from the blog was taken and put together into 1000 eBooks.He apologized for typos and spelling mistakes in his earlier books.He will endeavor to improve the writing in futures.Some people have complained that the simple guides are too simple.For their information they are made simple in order to educate the patients.The later books go into more details of medical disorders.He has published 1000 eBooks on various subjects on health, 1 autobiography of his medical journey, another on the autobiography of a Cancer survivor, 2 children stories and one how to study for his nephew and grand-daughter.The purpose of these simple guides is to educate patient on health disorders and not meant as textbooks.He does not do any night duty since 2000 ever since Dr Tan had his second stroke.His clinic is now relocated to the Buona Vista Community Centre.The 2 units of his original clinic are being demolished to make way for a new Shopping Mall.He is now doing some blogging and internet surfing (bulletin boards since the 1980's) startingwith the Apple computer and going to PC.The entire PC is upgraded by himself from XT to the present Pentium duo core.The present Intel i7 CPU is out of reach at the moment because the CPU is still expensive.He is also into DIY changing his own toilet cistern and other electric appliance.His hunger for knowledge has not abated and he is a lifelong learner.The children have all grown up and there are 2 grandchildren who are even more technically advanced than the grandfather where mobile phones are concerned.This book is taken from some of the many articles in his blog (now with 740 posts) A Family Doctor’s Tale.Dr Kee is the author of:"A Family Doctor's Tale""Life Lessons Learned From The Study And Practice Of Medicine""Case Notes From A Family Doctor"

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      Book preview

      A Simple Guide to Genetic Diseases - Kenneth Kee

      A

      Simple

      Guide

      to

      Genetic

      Diseases

      by

      Dr Kenneth Kee

      M.B.,B.S. (Singapore)

      Ph.D (Healthcare Administration)

      Copyright Kenneth Kee 2012 Smashwords Edition

      Published By Kenneth Kee at Smashwords.com

      Dedication

      This book is dedicated

      to my wife Dorothy

      and my children

      Carolyn, Grace

      and Kelvin

      This book describes the Genetic Diseases which are seen in some of my patients in my Family Clinic.

      This eBook is licensed for your personal enjoyment only. This eBook may not be re-sold or given away to other people. If you would like to share this book with another person, please purchase an additional copy for each reader.

      If you’re reading this book and did not purchase it, or it was not purchased for your use only, then please return to Smashwords.com and purchase your own copy.

      Thank you for respecting the hard work of this author.

      Introduction

      Genetic Diseases

      A genetic disease is a disease caused by a abnormal form of a gene called a variation or a change of a gene called a mutation.

      Genetic disorders can be caused

      1. by a mutation in one gene (monogenetic disorder)

      Monogenetic disorders are relatively rare and are caused by a mutation in a single gene.

      The mutation may be present on one or both chromosomes (one chromosome inherited

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