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Expression of Blood Types
Blood type Genotype Pattern of inheritance
A I A I A or I A i I A is dominant to i
B I B I B or I B i I B is dominant to i
AB I A I B I A is co-dominant to I B
O ii Two recessive alleles

Certain combinations of alleles can be lethal, meaning they prevent the individual from developing in utero, or cause a shortened life span. In recessive lethal    inheritance patterns, a child who is born to two heterozygous (carrier) parents and who inherited the faulty allele from both would not survive. An example of this is Tay–Sachs, a fatal disorder of the nervous system. In this disorder, parents with one copy of the allele for the disorder are carriers. If they both transmit their abnormal allele, their offspring will develop the disease and will die in childhood, usually before age 5.

Dominant lethal inheritance patterns are much more rare because neither heterozygotes nor homozygotes survive. Of course, dominant lethal alleles that arise naturally through mutation and cause miscarriages or stillbirths are never transmitted to subsequent generations. However, some dominant lethal alleles, such as the allele for Huntington’s disease, cause a shortened life span but may not be identified until after the person reaches reproductive age and has children. Huntington’s disease causes irreversible nerve cell degeneration and death in 100 percent of affected individuals, but it may not be expressed until the individual reaches middle age. In this way, dominant lethal alleles can be maintained in the human population. Individuals with a family history of Huntington’s disease are typically offered genetic counseling, which can help them decide whether or not they wish to be tested for the faulty gene.

Mutations

A mutation    is a change in the sequence of DNA nucleotides that may or may not affect a person’s phenotype. Mutations can arise spontaneously from errors during DNA replication, or they can result from environmental insults such as radiation, certain viruses, or exposure to tobacco smoke or other toxic chemicals. Because genes encode for the assembly of proteins, a mutation in the nucleotide sequence of a gene can change amino acid sequence and, consequently, a protein’s structure and function. Spontaneous mutations occurring during meiosis are thought to account for many spontaneous abortions (miscarriages).

Chromosomal disorders

Sometimes a genetic disease is not caused by a mutation in a gene, but by the presence of an incorrect number of chromosomes. For example, Down syndrome is caused by having three copies of chromosome 21. This is known as trisomy 21. The most common cause of trisomy 21 is chromosomal nondisjunction during meiosis. The frequency of nondisjunction events appears to increase with age, so the frequency of bearing a child with Down syndrome increases in women over 36. The age of the father matters less because nondisjunction is much less likely to occur in a sperm than in an egg.

Whereas Down syndrome is caused by having three copies of a chromosome, Turner syndrome is caused by having just one copy of the X chromosome. This is known as monosomy. The affected child is always female. Women with Turner syndrome are sterile because their sexual organs do not mature.

Career connections

Genetic counselor

Given the intricate orchestration of gene expression, cell migration, and cell differentiation during prenatal development, it is amazing that the vast majority of newborns are healthy and free of major birth defects. When a woman over 35 is pregnant or intends to become pregnant, or her partner is over 55, or if there is a family history of a genetic disorder, she and her partner may want to speak to a genetic counselor to discuss the likelihood that their child may be affected by a genetic or chromosomal disorder. A genetic counselor can interpret a couple’s family history and estimate the risks to their future offspring.

For many genetic diseases, a DNA test can determine whether a person is a carrier. For instance, carrier status for Fragile X, an X-linked disorder associated with mental retardation, or for cystic fibrosis can be determined with a simple blood draw to obtain DNA for testing. A genetic counselor can educate a couple about the implications of such a test and help them decide whether to undergo testing. For chromosomal disorders, the available testing options include a blood test, amniocentesis (in which amniotic fluid is tested), and chorionic villus sampling (in which tissue from the placenta is tested). Each of these has advantages and drawbacks. A genetic counselor can also help a couple cope with the news that either one or both partners is a carrier of a genetic illness, or that their unborn child has been diagnosed with a chromosomal disorder or other birth defect.

To become a genetic counselor, one needs to complete a 4-year undergraduate program and then obtain a Master of Science in Genetic Counseling from an accredited university. Board certification is attained after passing examinations by the American Board of Genetic Counseling. Genetic counselors are essential professionals in many branches of medicine, but there is a particular demand for preconception and prenatal genetic counselors.

Visit the National Society of Genetic Counselors website for more information about genetic counselors.

Visit the American Board of Genetic Counselors, Inc., website for more information about genetic counselors.

Chapter review

There are two aspects to a person’s genetic makeup. Their genotype refers to the genetic makeup of the chromosomes found in all their cells and the alleles that are passed down from their parents. Their phenotype is the expression of that genotype, based on the interaction of the paired alleles, as well as how environmental conditions affect that expression.

Working with pea plants, Mendel discovered that the factors that account for different traits in parents are discretely transmitted to offspring in pairs, one from each parent. He articulated the principles of random segregation and independent assortment to account for the inheritance patterns he observed. Mendel’s factors are genes, with differing variants being referred to as alleles and those alleles being dominant or recessive in expression. Each parent passes one allele for every gene on to offspring, and offspring are equally likely to inherit any combination of allele pairs. When Mendel crossed heterozygous individuals, he repeatedly found a 3:1 dominant–recessive ratio. He correctly postulated that the expression of the recessive trait was masked in heterozygotes but would resurface in their offspring in a predictable manner.

Human genetics focuses on identifying different alleles and understanding how they express themselves. Medical researchers are especially interested in the identification of inheritance patterns for genetic disorders, which provides the means to estimate the risk that a given couple’s offspring will inherit a genetic disease or disorder. Patterns of inheritance in humans include autosomal dominance and recessiveness, X-linked dominance and recessiveness, incomplete dominance, codominance, and lethality. A change in the nucleotide sequence of DNA, which may or may not manifest in a phenotype, is called a mutation.

Questions & Answers

life circle of RBC and the life circle of WBC.
Yemi Reply
RBC 120days
Zeph
RBC 120days and WBC 10-12days
sai
what is anatomy?
Md Reply
positive feedback mechanism
Sirimala Reply
what is immunology
Riya Reply
immunology is a branch of medicine that study's the body immune system
SAMUEL
Immunology This is the study of specific and non-specific resistance of the body against infection i.e. the study of the immune response of a host to a foreign substance, which includes study of various reactions which are induced in the body by introduction of a substance.
Kaluki
what is role of elimination need like fluid and also stools
Munmun Reply
bone
Vijay
what is joint pain
Vijay
is the physical suffering caused by illness or injury of the joint
malulu
pls can someone describe shock,types ,pathophysiology and treatment
Isaac
this is what I'm thinking "After taking out everything the body needs, the bowel then expels the leftover waste."
isaiah
I think elimination also helps in the continuation of the digestive system because if the unwanted fluids and stools does not come out of the system it can create a problem in the digestive. system resulting in diseases.
Martha
shock is a condition whereby the circulating system is unable to get enough blood and oxygen to vital organs like the brain,heart,eye,kidney and others.
Martha
causing depression of those organs.
Martha
there are 2 classification of shock. primary shock: this occurs immediately after injury due emotional stimulus or pain.example hearing a bad news,sudden obstruction of airway.sudden heart attack. secondary shock :it occurs when primary shock is delayed
Martha
types of shock syncope (faint) oligaemic or hyppvovaemic shock. Anaphylactic shock. neurogenic/ physical shock septic sock catdiogenic shock.
Martha
What is the difference between dna duplication and chromosomes duplication?
to help you identify the human body parts to help you live a healthy life the study of Anatomy helps one to work in any health sector
sophia Reply
okay.
what is the function of the mitochondrial in the cell
Vida Reply
define and explain the synovial membrane
Mahmudu Reply
What is cloning?
Jesam Reply
relationship between anatomy and physiology
Ranjeeta Reply
anatomy is the structure and physiology is the function
Isaac
the branches of physiology
Asiedu Reply
is single DNA arranged into 46 chromosomes
Vaishnavi Reply
don't know about it
Sachin
no it is duble strand or pair of chromosomes
Marta
how does muscle contraction work?
Matthew
no,it is arranged as 23 pairs chromosomes
Ajiola
what are the parts of a cell?
Noel Reply
cell body, nucleus, cytoplasm, endoplasmic reticulum (rough and smooth), Golgi apparatus, cell membrane and organelles.
Heather
cell membrane, cell wall,cytoplasm, nucleus, etc
Felix
explain how skeletal muscles work
Felix
they work voluntarily
Trina
46 chromosomes present in which part of human body
Anar
when twins born how both of them carry 46 chromosomes
Anar
In the nuclear membrane
wisdom
but thiere r many cells n definetely cells have many nuclear membrane
Anar
cytoplasm plasma membrane nucleus
Ajiola
nucleus cytoplasm epr spr mitochondria
sureshbabu
cell have many parts and it act as different function s
sureshbabu
lysosome, golge body, cytoplasm, smooth endoplasmic reticulum
Vida
what is sex with male and female!
Muhammad Reply
intercourse
Jessie
sexual intercourse
Jessie
for formation of new generation
Sunil
sex is a female and male body courtship, rubbing of penis and vagina which results in release of fluids (sperm) from male in to the vagina of the female know as ejaculation
CHUOL
sex is a body courtship, penis and vagina rubbing which results in release of fluids sperm)
CHUOL
how sure a u?
Pius
it's like copulation
Pius

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Source:  OpenStax, Anatomy & Physiology. OpenStax CNX. Feb 04, 2016 Download for free at http://legacy.cnx.org/content/col11496/1.8
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