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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

explain respiratory centers
Tharshana Reply
which enzyme help in excretion of bile
Sakshi Reply
how conversion of Beta-carotiene into vitamin-A takes place
Sakshi
best reference books for anatomy pls suggest that
Sakshi
what is gross anatomy
Saroj Reply
The study of large structure of the body
Mablean
what is scrotum
Dakshit Reply
a bag of skin near the penis which contains the testicles
Mablean
hi
Sardar
its me Sardar from kpk pakistan
Sardar
Why are you on my digits
Mablean
hi
Kryme
how does it work?
Uriah Reply
I want to know the fertilization process in human
Nana Reply
Which plane divides the body into right and left parts
Kaeze
sagittal plane
Irvin
Thank you
Kaeze
Homestatic regulations usually involves a (n) _ that detects a particular stimulus, and a(n) _that respond to the stimulus by communicating with a (n) _whose activity has an effect on the same stimulus.
Kaeze
A cell is producing proteins to be transported out of that cell. They will be processed on ribosomes that are
Kaeze
what are diseases in the bood
Azoyenime Reply
Haemophilia
Aliyu
right hypochondriac rision how meain word
Ganesh Reply
Diabetes insipidus or diabetes mellitus would most likely be indicated by ________.
Ganesh
oral cavity how miean
Ganesh Reply
oral cavity how mean what
Suresh
seems to me every one is here a doctor and worse part is that even they donot know what to ask.
Muhammad
they know what to ask the problem is how to ask it.too much broken english.
George
dear George ongeche I think if they ask these kind questions and telling themselves as HCPs or medical student's .these are the basic ones go ask something more interesting .
Muhammad
what is blood red
Ahmad Reply
what is human anatomy?
Arpita Reply
tell me what is human anatomy?
Arpita
what is Openstax?
Arpita
arpita jana I think it's not the forum to ask such basic question...
Muhammad
study of structure of an object in this case human body.
Suresh
what are deferent between trasemicacid and vitamin k
Ubah Reply
This medication is used to treat heavy bleeding during your menstrual period. Tranexamic acid works by slowing the breakdown of blood clots, which helps to prevent prolonged bleeding. It belongs to a class of drugs known as antifibrinolytics
Muhammad
jj
John
In the body, vitamin K plays a major role in blood clotting. So it is used to reverse the effects of “blood thinning” medications when too much is given; to prevent clotting problems in newborns who don’t have enough vitamin K; and to treat bleeding caused by medications including salicylates, sulfo
Muhammad
Vitamin K plays a key role in helping the blood clot, preventing excessive bleeding. Unlike many other vitamins, vitamin K is not typically used as a dietary supplement. Vitamin K is actually a group of compounds. The most important of these compounds appears to be vitamin K1 and vitamin K2. Vitami
Muhammad
how much tha total vertebrea bone
Muhammad
26 vertebrea bone
Bhumi
wathe is blood function
dhena Reply
Blood, fluid that transports oxygen and nutrients to the cells and carries away carbon dioxide and other waste products. ... It is a tissue because it is a collection of similar specialized cells that serve particular functions. These cells are suspended in a liquid matrix (plasma), which makes the 
Ashiish
how tissue carries waste matrial
Nadeem
how many bone in human body?
Islam Reply
what is endocrin? plese help many people.
Islam
206
Nadeem
heart layers
Suresh
endoceime is the inner layer of heart
pandit
What is buffer?
Peer Reply
a buffer is a solution that resists a chemical change.
George
Yup it also balances the solutions
Peer

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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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