Human genetics describes the study of inheritance as it occurs in human beings.

Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling. Genes can be the common factor of the qualities of most human-inherited traits. Study of human genetics can be useful as it can answer questions about human nature, understand the diseases and development of effective disease treatment, and understand genetics of human life.


human genome is the genome of Homo sapiens, which is stored on 23

chromosome pairs. 22 of these are autosomal chromosome pairs, while the remaining pair is sex-determining. The haploid human genome occupies a total of just over 3 billion DNA base pair. Genetic information of human is encoded in two genomes: nuclear and mitochondrial. Both of them reflect molecular evolution of human starting from the beginning of life (about 4.5 billion years ago) until the origin of Homo sapiens species about 100000 years ago. From this reason human genome contains some features that are common for different groups of organisms and some features that are unique for Homo sapiens. 3.2 * 10^9 base pairs of human nuclear genome are packed into 23 chromosomes of different size. The smallest chromosome . 21st contains 5 *10^7 base pairs while the biggest one .1st contains 2.63*10^8 base pairs. Despite the fact that the nucleotide sequence of all chromosomes is established, the organisation of nuclear genome put still questions: for example: the exact number of genes encoded by the human genome is still unknown giving estimations from 30 to 150 thousand genes. Coding sequences represent a few percent of human nuclear genome. The majority of the genome is represented by repetitive sequences (about 50%) and non-coding unique sequences. This part of the genome is frequently wrongly called junk DNA. The distribution of genes on chromosomes is irregular, DNA fragments containing low percentage of GC pairs code lower number of genes than the fragments of high percentage of GC pairs.

Already pre-Socratic philosophers noticed that people shared some characteristics. eidos. the way to understand our blueprint became clear. Fertilization is the mixing of the seed material of father and mother. Crick unreveled the structure of DNA. June26. of the female is the unformed substance shaped by the eidos of the semen. also by Charles Darwin.) and was widely accepted until the end of the nineteenth century. According to his teaching. Aristotle of Stagira had a different view on the problem. seed materialis carried from all parts of the body to reproductive organs by the humors. as described in one of his major works “Degeneratione animalium”.C. The semen of the male contributes the form-giving principle. in other words they were alike. In 1953 James D. “cantemina” . followed by discovery of chromosomes by Thomas H. Watson and Francis H. Several biological discoveries were especially important to decipher the human genome. large forehead. That all parts of the body participate in the production of seed material is documented by the fact that blue-eyed parents have blue-eyed children and bald headed men have sons that become bald headed. By now. 2000 marked a significant day in history when completion of a working draft of the human genome was announced worldwide. Consequently. Aristotle’s theory of inheritance. The idea of panspermy or pangenesis was adapted and taught by the famous physician Hipocrates (about 460–377 B. e. this in our view.Morgan in 1910. They were well aware of two aspects of living nature: an immense variability within each species and the tendency for characteristics of parents to be transmitted to their offspring.HISTORICAL PERSPECTIVE.g . STRUCTURE OF HUMAN GENOME . Everything started with the rediscovery of Mendel’s laws by Hugo Marie De Vries (1900). a nose.”(Aristotle. is the specific characteristic of each sex: that is what it means to be male or to be female. Matthaei and Marshall Nirenberg performed experiments which enabled deciphering the genetic code. many complete genomes of both prokaryotic and eukaryotic organisms have been sequenced. with some exceptions. “The female always provides the material. He held that the contributions by males and females were not equal. One of the greatest scientists of all time. the male provides that which fashions the material into shape.The twentieth century witnessed accelerated development of biology and with it the nature of the inheritance process was understood.C. 1965).From the beginning of humanity. Four years later. two hands. With the development of the fast methods of DNA sequencing in the mid-seventies. was holistic. an effort to decipher the blueprint of our species has started. and reaserch in the field of human genetics entered a new dimension. while the menstrual blood.had usually. people have been interested in themselves. Johan H. Probably the first person who publicly expressed his thoughts on the subject was Anaxagoras of Clazomenae.followed by automation of cloning and sequencing in the nineties.

which serve to package the DNA and control its functions. From the functional point of view we can distinguish genes.2 million bps are packed in 22 pairs of autosomes and two sex chromosomes. and sex chromosomes. is almost five times bigger with 249 million bps. Chromosomes also contain DNA-bound proteins. Human cells have 23 pairs of large linear nuclear chromosomes. is 54 million bps long. The autosomes contain the rest of the genetic hereditary information. the smallest. In addition to these. the largest. X and Y. regulatory elements and other nucleotide sequences. and are passed on through the sex chromosomes. based on the estimated size of unsequenced heterochromatin regions. Certain genetic traits are linked with the sex of an indivudial. There are many pseudogenes in the human genome (0. . Almost half of these sequences consist of different transposons. chromosome 1. moreover. It is a single piece of coiled DNA containing many genes. This genetic sequence or genome is packed in highly condensed structures called the chromosomes. Only a minute fraction of the genome about 3% codes for proteins. pseudogenes. Human chromosomes are not of equal sizes . giving a total of 46 per cell. and non-coding DNA. chromosome 21. Sequencing of the human genome has provided a great deal of information about each of the chromosomes. human cells have many hundreds of copies of the mitochondrial genome. All act in the same way during cell division. A chromosome is an organized structure of DNA and protein found in cells.GENERAL INFORMATION. Total chromosome length is an estimate as well.5%) but most of the genome consists of introns and intergenic DNA. the remaining non-coding DNA most likely originated from transposable elements as well but with time they have mutated beyond recognition. Genomic sequences can be divided in several ways. Chromosomes can be divided into two types—autosomes. In nuclear genome 3.Human genetic material is stored in two organelles: nucleus and mitochondria.

263.651 59.843.153 63.585 81.281 7 2.846 Y (sex chromosome) 454 Total 32.528. such as the roundworm and the fruit fly.896.827 191.127.656. the number of human genes seems to be less than a factor of two greater than that of many much simpler organisms.117.374. Earlier predictions estimated that human cells had as many as 2.505.298 131.360.555 20 1.323 49.155 55.837.913.435.171.220 2 1.766 167.826 140.737 131. However.274. most human genes have multiple exons.092 X (sex chromosome) 1.953 154.106 9 1.980 106.652 3.993 154.347 15 921 16 909 17 1.273.793 11 379 12 76.751. The estimate of the number of human genes has been repeatedly revised down as genome sequence quality and gene finding methods have improved.298 135.826 120.651 62.624.254 34.254 78.534 95.915 78.754 57.312.652 2.737 134.754 25.452.585 100. .953 151.853 130.915 88.063 Sequenced bases[5] 224.884.303.000 and 25.893.920 10 1.965 46.993 158.704.220 74.672 18 519 19 1.754 77.384 132.Chromosome Genes 1 4.000 human protein-coding genes.980 88.857.534 114.999.741.719 237.702.654.806.698.866 170.079.008 21 578 22 1.063 180.785.000 genes. and human introns are frequently much longer than the flanking exons.821.430 13 924 14 1.446.944. Surprisingly.712.719 242.560 Genes There are estimated to be between 20.442.185 Total base 247.135 8 1.612. Besides.149 199.424 146. and the human proteome is thought to be much larger than those of the aforementioned organisms.649 194.998 34.822.491 3 1.827 187.550 4 446 5 609 6 2. human cells make extensive use of alternative splicing to produce several different proteins from a single gene.952.058.800.559.289.290.338.199.424 142.341.

occurred 70–90 million years ago. but do regulate when and where genes are expressed. Aside from genes and known regulatory sequences. These vertebrates have essentially the same genes and regulatory gene sequences as humans. These are typically short sequences that appear near or within genes. and other non-coding RNA genes. So computer comparisons of gene sequences that identify conserved non-coding sequences will be an indication of their importance in duties such as gene regulation. if any. Each chromosome contains various gene-rich and gene-poor regions. In addition to protein coding genes. remains unknown. Much of this is composed of: Repeat elements Transposons Noncoding DNA HUMAN GENETIC DISORDERS . ribosomal RNA. the human genome contains thousands of RNA genes. high-throughput expression and comparative genomics studies. A systematic understanding of these regulatory sequences and how they together act as a gene regulatory network is only beginning to emerge from computational. of the human genome size. the human genome contains vast regions of DNA the function of which. including tRNA. coding exons) comprise less than 1. Another comparative genomic approach to locating regulatory sequences in humans is the gene sequencing of the puffer fish. Some types of non-coding DNA are genetic "switches" that do not encode proteins. which seem to be correlated with chromosome bands and GC-content. Other DNA Protein-coding sequences (specifically. but with only one-eighth the noncoding DNA.5% of the human genome. Regulatory sequences The human genome has many different regulatory sequences which are crucial to controlling gene expression. microRNA. The evolutionary branch between the primates and mouse. Identification of regulatory sequences relies in part on evolutionary conservation. by some estimates 97%. The compact DNA sequence of the puffer fish makes it much easier to locate the regulatory genes. for example. These regions in fact comprise the vast majority. The significance of these nonrandom patterns of gene density is not well understood.Human genes are distributed unevenly across the chromosomes.

15. • Inversions: A portion of the chromosome has broken off. Among these chromosomal disorders are the most common. A Karyotype refers to a full set of chromosomes from an individual which can be compared to a "normal" Karyotype for the species via genetic testing. etc). also known as Trisomy 21 (an individual with Down Syndrome has three copies of chromosome 21.Tetrasomy. This can take several forms: • Deletions: A portion of the chromosome is missing or deleted. In humans an example of a condition caused by a numerical anomaly is Down Syndrome. • Duplications: A portion of the chromosome is duplicated. A chromosome anomaly may be detected or confirmed in this manner. which is caused by partial deletion of the short arm of chromosome 4. Numerical Disorders This is called Aneuploidy (an abnormal number of chromosomes). . rather than two). Known human disorders include Charcot-Marie-Tooth disease type 1A which may be caused by duplication of the gene encoding peripheral myelin protein 22 (PMP22) on chromosome 17. Known disorders in humans include Wolf-Hirschhorn syndrome. turned upside down and reattached. A chromosome anomaly. 14. Turner Syndrome is an example of a monosomy where the individual is born with only one sex chromosome. and occurs when an individual is missing either a chromosome from a pair (monosomy) or has more than two chromosomes of a pair (Trisomy. There are two main types of translocations: In a reciprocal translocation. In a Robertsonian translocation. therefore the genetic material is inverted. segments from two different chromosomes have been exchanged. Structural abnormalities When the chromosome's structure is altered. There are many types of chromosome anomalies.A genetic disorder is an abnormal condition that is caused by an abnormality in an individual's DNA. They can be organized into two basic groups: numerical and structural anomalies. Chromosome anomalies usually occur when there is an error in cell division following meiosis or mitosis. • Translocations: When a portion of one chromosome is transferred to another chromosome. These Abnormalities can range from a small mutation in a single gene to the addition or subtraction of an entire chromosome or set of chromosomes. resulting in extra genetic material. an entire chromosome has attached to another at the Centromere – in humans these only occur with chromosomes 13. an X. 21 and 22. abnormality or aberration reflects an atypical number of chromosomes or a structural abnormality in one or more chromosomes.

Karyotype Analysis of Human Chromosomes Biochemical Estimations PEDIGREES 1. The karyotype shows the number. CHROMOSOMAL ANAMOLIES AND DIAGNOSIS OR GENETIC SCREENING Chromosomal abnormalities can be diagnosed before birth using prenatal tests [amniocentesis or chorionic villus sampling (CVS)] or after birth using a blood test. Cells obtained from these tests are grown in the laboratory. The lab makes a picture (karyotype) of all the person’s chromosomes.• Rings: A portion of a chromosome has broken off and formed a circle or ring. II. Karyotype preparation and analysis . arranged in order from largest to smallest. . This can happen with or without loss of genetic material. and then their chromosomes are examined under a microscope. size and shape of the chromosomes and helps experts identify any abnormalities. I. • Isochromosome: Formed by the mirror image copy of a chromosome segment including the centromere. III.

etc) are grown in vitro (in a cell culture dish) to increase their number Cell division is then arrested in metaphase with colchicine (prevents mitotic spindle from forming) Cells are centrifuged and lysed to release chromosomes Chromosomes are stained. Normal male karyotype 3.Cells (from blood. arrested in metphase. amniotic fluid. photographed. and grouped by size and banding patterns This is a photograph of the 46 human chromosomes in a somatic cell. The first . There are three types of chromosome abnormalities in Down syndrome. Normal female karyotype Down Syndrome: Down syndrome (DS) is a genetic disorder that is caused by an extra chromosome 21 that is present in all or some of the individual's cells. 2.

however. DS is one of the most common chromosome abnormalities. circulatory defects as well as cleft palate. however. the following is a list of the most common traits: Low muscle tone Flat facial profile (depressed nasal bridge and small nose) Flattening of the back of the head Small hands and feet An upward slant of the eyes An abnormal shape of the ear A single deep crease across the center of the palm An excessive ability to extend the joints Fifth finger has one flexion furrow instead of two Small skin folds on the inner corner of the eyes Excessive space between large and second toe Enlargement of tongue in relation to the size of the mouth Mental retardation (can range from very mild to severe. Not every individual has all the characteristics. There are many physical characteristics that are associated with DS. is typically mild to moderate) Speech delays Short stature KARYOTYPE WITH DOWN’S SYNDROME: Patau syndrome (trisomy 13): Serious eye. 1:5000 live births. the individual has an extra chromosome 21. With trisomy called trisomy 21 and is the most common form of DS. which results in a total of 47 chromosomes in each cell rather than the typical 46. Children rarely live more than a few months. . brain. It is estimated that the incidence is between 1 in 800 to 1.000 live births.

also known as the XXY condition. Children with full Trisomy 18 generally do not live more than a few months. XXY Klinefelter syndrome.000 live births. is a term used to describe males who have an extra X chromosome .Edward's syndrome (trisomy 18): Almost every organ system affected. Klinefelter syndrome: 47. 1:10.

feminine body characteristics. short trunk. • • • • • • . Instead of having the usual XY chromosome pattern that most males have. Abnormal body proportions (long legs. sterile. these men have an XXY pattern. Women with Turner's syndrome have only 45 . unusually small testes.Male sex organs. and facial hair Small. shoulder equal to hip size) Abnormally large breasts (gynecomastia) Infertility Sexual problems Less than normal amount of pubic. The following tests may be performed : • • Karyotyping Semen count KARYOTYPE WITH KLINEFELTER SYNDROME: Treatment Testosterone therapy may be prescribed Monosomy X (Turner's syndrome): 1:5000 live births. firm testicles. the only viable monosomy in humans. Normal most of their cells. armpit.

it was thought that these men were likely to be criminally aggressive. but this hypothesis has been disproven over time. XO individuals are genetically female. they do not mature sexually during puberty and are sterile. At one time (~1970s). however.chromosomes. . (98% of these fetuses die before birth) 47. Short stature and normal intelligence. XYY males: Individuals are somewhat taller than average and often have below normal intelligence.

XXX syndrome (also called Trisomy X or Triple X) is caused by the presence of an extra ‘X’ chromosome in every cell. but can include: • • • Physical: o Tall stature (height) o Possible mild facial characteristics: increased width between eyes. but may be 10-15 points below siblings o Speech and language delays (50%) o Delayed motor skills: poor coordination.usually cannot be distinguished from normal female. a female has two X chromosomes in every cell of their body. healthy and fertile . Typically. Signs and symptoms vary a lot between individuals. skin fold at inner eyelid (epicanthal fold). proportionately smaller head size Developmental: o Learning disabilities (70%): Normal IQ. difficulty with interpersonal relationships . clumsiness Behavioral: introverted.3. Trisomy X: 47. so the extra ‘X’ is unusual 1:1000 live births . awkwardness. Many girls and women with Triple X have no signs or symptoms. XXX females.

Affects 1:1500 males. a small head with unusual facial features. Most people have 29 "repeats" at this end of their Xchromosome. those with Fragile X have over 700 repeats due to duplications. Fragile X: The most common form of mental retardation.seen "hanging by a thread" under a microscope. . and a cry that sounds like a distressed cat. The X chromosome of some people is unusually fragile at one tip .Cri du chat (cry of the cat): A specific deletion of a small portion of chromosome 5. 1:2500 females. . these children have severe mental retardation.

or Y-linked.  Pedigrees are the human equivalent of test crosses. • Autosomal recessive. The balance of genes is still normal (nothing has been gained or lost) but can alter phenotype as it places genes in a new environment.Translocation: a fragment of a chromosome is moved ("trans-located") from one chromosome to another . Four different traits can be identified by pedigree chart analysis: • Autosomal dominant.  Pedigrees are a convention for keeping track of human genetic traits used to infer genotype. A pedigree can also be used to help determine the chances for a parent to produce an offspring with a specific trait. Can also cause difficulties in egg or sperm development and normal development of a zygote. • X-linked.joins a non-homologous chromosome. Acute Myelogenous Leukemia is caused by thistranslocation: I I PEDIGREE A pedigree is a diagram showing the ancestral relationships and transmission of genetic traits over several generations in a family. Pedigrees are used to help detect many different genetic diseases. .ACUTE MYELOGENOUS LYMPHOMA.

and relationships between siblings. parent-offspring relationships. The origin of these patterns are discussed below. Males are designated with square symbols. alleles and loci display characteristic patterns in pedigrees just as they do when following traits in any organism by any means (i. . sex linked. recessive. Females with round symbols Lines are drawn to indicated matings. iv. etc.. in addition to historical). .e. Traits associated with dominant. iii.In a visualization of a pedigree: i. ii.

Hemophilia affects males much more frequently (1 in 10. hemophilia affecting Victoria’s offspring had nothing to do with the curse. . This occurs because a critical blood clotting gene is carried on the X chromosome. a member of the Kohary family. This curse was supposed to have dated from the early nineteenth century. the other normal X chromosome can compensate.000). Duke of Kent. for it suddenly cropped up in the children of Great Britain’s Queen Victoria. Russia. and only a few hemophiliacs survived to reproductive age because any small cut or internal hemorrhaging after even a minor bruise were fatal. she will simply be a carri er of the recessive defective gene. A monk. The appearance of hemophilia in one of Victoria’s sons upset and confused the Queen. If only one is defective.The utility and use of PEDIGREE can be very well understood by taking the very famous example of Hemophilia: “The Royal Disease” . a whisper about the “curse of the Coburgs” was spread about. We can trace the appearance of hemophilia as it popped up in Spain. However.000) than females (1 in 100. such treatment is very expensive and involves the risk of contracting AIDS. Since males only carry one X chromosome. women hemophiliacs are rare because it takes two defective X chromosomes in order for the condition to be seen. who could only protest that the disease did not originate in her side of the family. hemophilia was untreatable. Yet. when a Coburg prince had married a Hungarian princess named Antoinette de Kohary. hemophilia will immediately show up.000. From there it spread through the Royal Houses of Europe as monarchs arranged marriages to consolidate political alliances. Until recently. Of course. The traditional view is that there was a mutation in either her or in a sperm of her father. Now hemophilia is treated with blood transfusions and infusions of a blood derived substance known as anti-hemophilic factor. and cursed future generations of Coburgs with the disease. Naturally. This fact will be discovered if some of her children are hemophiliacs. on the other hand. Females. and Prussia by looking at the family tree. The woman will have normal blood clotting. Hemophilia is an X-linked recessive disorder characterized by the inability to properly form blood clots. Edward Augustus. if that is defective. carry two X chromosomes. Queen Victoria had always been worried about the quality of the blood of the British royal family. An early death is likely. Hemophilia has played an important role in Europe’s history. It became known as the “Royal disease” because it spread to the royal families of Europe through Victoria’s descendants. envied the wealth inherited by the happy couple from the bride’s father.

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