MUTATION

I.Introduction

You want to know more about mutation? Lets find out!!

So mutation may affect only one gene or a whole chromosome.The errors in the sequence of  DNA provide the variation that is fundamental to the evolution of species.

Kinds of Mutation

PATAU SYNDROME

Patau syndrome, also known as trisomy 13 and trisomy D, is a chromosomal abnormality, a syndrome in which a patient has an additional chromosome 13 due to a nondisjunction of chromosomes during meiosis Some are caused by Robertsonian translocation The extra chromosome 13 disrupts the normal course of development, causing heart and kidney defects, amongst other features characteristic of Patau syndrome. Like all nondisjuncton conditions (such as Down Syndrome and Edwards Syndrome), the risk of this syndrome in the offspring increases with maternal age at pregnancy, with about 31 years being the average. Patau syndrome affects somewhere between 1 in 10,000 and 1 in 21,700 live births.

PROGERIA SYNDROME

Progeria (also known as "Hutchinson–Gilford Progeria Syndrome","Hutchinson–Gilford syndrome", and "Progeria syndrome") is an extremely rare genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. The word progeria comes from the Greek words "pro" , meaning "before", and "géras" , meaning "old age". The disorder has very low incidences and occurs in an estimated 1 per 8 million live births. Those born with progeria typically live to their mid teens and early twenties. It is a genetic condition that occurs as a new mutation (de novo), and is rarely inherited. Although the term progeria applies strictly speaking to all diseases characterized by premature aging symptoms, and is often used as such, it is often applied specifically in reference to Hutchinson-Gilford Progeria Syndrome (HGPS).

ALBINISM SYNDROME

Albinism (from LATIN albus, "white"; see extended etymology, also called achromia, achromasia, or achromatosis) is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect of an enzyme involved in the production of melanin. Albinism results from inheritance of recessive gene alleles and is known to affect all vertebrates, including humans. While an organism with complete absence of melanin is called an albino , an organism with only a diminished amount of melanin is described as albinoid.

EDWARDS SYNDROME

Edwards syndrome (also known as Trisomy 18 (T18) or Trisomy E) is a genetic disorder caused by the presence of all or part of an extra 18th chromosome. It is named after John H. Edwards, who first described the syndrome in 1960. It is the second most common autosomal trisomy after Down syndrome, that carries to term.

Edwards syndrome is caused by the presence of three – as opposed to two – copies of chromosome 18 in a fetus's or infant's cells. Edwards' syndrome occurs in around one in 6,000 live births and around 80 per cent of those affected are female. The majority of fetuses with the syndrome die before birth. The incidence increases as the mother's age increases. The syndrome has a very low rate of survival, resulting from heart abnormalities, kidney malformations, and other internal organ disorders.

TURNER SYNDROME

Turner syndrome or Ullrich-Turner syndrome (also known as "Gonadal dysgenesis^:550), 45 XO, encompasses several conditions in human females, of which monosomy X (absence of an entire sex chromosome, the Barr body) is most common. It is a chromosomal abnormality in which all or part of one of the sex chromosome is absent (unaffected humans have 46 chromosomes, of which two are sex chromosomes). Normal females have two X chromosomes, but in Turner syndrome, one of those sex chromosomes is missing or has other abnormalities. In some cases, the chromosome is missing in some cells but not others, a condition referred to as mosaicism or 'Turner mosaicism'.

II.Conclusion

On my own conclusion we have to be thankful that we are not like them that suffers that kind of syndrome we must take care ourselves,we don't know what happen next when your born again.

PROJECT IN BIOLOGY"

INTRODUCTIONS:


A mutation is a permanent change in the DNA sequence of a gene. Mutations in a gene's DNA sequence can alter the amino acid sequence of the protein encoded by the genes.How does this happen? Like words in a sentence, the DNA sequence of each gene determines the amino acid sequence for the protein it encodes. The DNA sequence is interpreted in groups of three nucleotide bases, called codons. Each codon specifies a single amino acid in a proteins. 


  Kind's of Syndrome 

A mutation is a permanent change in the DNA sequence of no acid sequence of the protein encoded by the gene.

How does this hap

pen? Like words in a sentence, the DNA sequence  eac

2.Klinefelter syndrome, 47, XXY, or XXY syndrome is a condition in which human males have an extra X chromosome. While females have an XX chromosomal makeup, and males an XY, affected individuals have at least two X chromosome and at least one Y chromosome Because of the extra chromosome, individuals with the condition are usually referred to as "XXY Males", or "47, XXY Males"Klinefelter's syndrome is the symptoms of the disease Seminiferous Tubule Dysgenesis As stated below this form of hypogonadism was first described by Klinefelter et al in 1942. The account given by Klinefelter came to be known as Klinefelter's syndrome as his name appeared first on the published paper, and Seminiferous Tubule Dysgenesis was no longer used.

Klinefelter syndrome, 47, XXY, or XXY syndrome is a condition in which human males have an extra X chromosome. While females have an XX chromosomal makeup, and males an XY, affected individuals have at least two X chromosome and at least one Y chromosome Because of the extra chromosome, individuals with the condition are usually referred to as "XXY Males", or "47, XXY Males".
Klinefelter's syndrome is the symptoms of the disease Seminiferous Tubule Dysgenesis As stated below this form o

f hypogonadism was first described by Klinefelter et al in 1942. The account given by Klinefelter came to be known as Klinefelter's syndrome as his name appeared first on the published paper, and Seminiferous Tubule Dysgenesis was no longer used.

Progeria (also known as "Hutchinson–Gilford Progeria Syndrome", "Hutchinson–Gilford syndrome", and "Progeria syndrome is an extremely rare genetic condition wherein symptoms resembling aspects of aging are manifested at an early age. The word progeria comes from the Greek words "pro" , meaning "before", and "géras"  meaning "old age". The disorder has very low incidences and occurs in an estimated 1 per 8 million live births. Those born with progeria typically live to their mid teens and early twenties. It is a genetic condition that occurs as a new mutation (de novo), and is rarely inherited. Although the term progeria applies strictly speaking to all diseases characterized by premature aging symptoms, and is often used as such, it is often applied specifically in reference to Hutchinson-Gilford Progeria Syndrome (HGPS) 

Down syndrome is a chromosomal condition characterized by the presence of an extra copy of genetic material on the 21st chromosome, either in whole (trisomy 21) or part (such as due to translocation). The effects and extent of the extra copy vary greatly among people, depending on genetic history, and pure chance. The incidence of Down syndrome is estimated at 1 per 733 births, although it is statistically more common with older parents due to increased mutagenic exposures upon some older parents' reproductive cells. Other factors may also play a role. Down syndrome occurs in all human populations, and analogous conditions have been found in other species such as chimpanzees and mice

Edwards syndrome (also known as Trisomy 18 (T18) or Trisomy E) is a genetic disorder caused by the presence of all or part of an extra 18th choromosome. It is named after John H.Edwards, who first described the syndrome in 1960. It is the second most common autosomal trisomy, after Down syndrome, that carries to term.
Edwards syndrome is caused by the presence of three – as opposed to two – copies of chromosome 18, in a fetus's or infant's cells. Edwards' syndrome occurs in around one in 6,000 live births and around 80 per cent of those affected are female. The majority of fetuses with the syndrome die before birth. The incidence increases as the mother's age increases. The syndrome has a very low rate of survival, resulting from heart abnormalities, kidney malformations, and other internal organ disorders.

Patau syndrome, also known as trisomy 13 and trisomy D, is a chromosomal abnormality, a syndrome in which a patient has an additional chromosome 13 due to a nondisjunction of chromosomes during meiosis. Some are caused by  Robertsonian translocation. The extra chromosome 13 disrupts the normal course of development, causing heart and kidney defects, amongst other features characteristic of Patau syndrome. Like all nondisjunction conditions (such as Down syndrome and Edwards syndrome), the risk of this syndrome in the offspring increases with maternal age at pregnancy, with about 31 years being the average Patau syndrome affects somewhere between 1 in 10,000 and 1 in 21,700 live births

A genetic disorder is an illness caused by abnormalities in genes or chromosomes, especially a condition that is present from before birth. Most genetic disorders are quite rare and affect one person in every several thousands or millions.

A genetic disorder may or may not be a heritable disorder. Some genetic disorders are passed down from the parents' genes, but others are always or almost always caused by new mutations or changes to the DNA. In other cases, the same disease, such as some forms of cancer, may be caused by an inherited genetic condition in some people, by new mutations in other people, and by non-genetic causes in still other people.

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