Pcr In Diagnosis And Detection Of Hemophilia Biology Essay


Hemophilia is a type of familial familial upset disease. It normally occurs in male births than female births. Patients who have hemophilia are deficiency of thrombocytes to organize a impermanent stopper if they are injured, their organic structures can non halt hemorrhage. There are three types of haemophilia which include hemophilia A, haemophilia B and hemophilia C. The old two types of haemophilia are normally seen than the last 1.

Due to hemophilia is an familial disease, there is a figure of methods are available to name haemophilias in the early gestation, if the female parent is a bearer of haemophilia. Generally, utilizing traditional diagnostic methods to observe haemophilias need taking a twosome yearss to obtain the consequence. After many research and applications of the PCR technique in diagnosing of familial disease, due to its truth and efficiency, it has become one of most normally used technique in diagnosing of familial familial disease.

This essay will analyze briefly what haemophilia is, so depict what is the chief cause of haemophilia. Furthermore, giving more inside informations about disease information.

We Will Write a Custom Essay Specifically
For You For Only $13.90/page!

order now

In add-on, it will explicate how the PCR technique can be applied in hemophilia diagnosing and why it is superior to other diagnostic methods.


Hemophilia is defined as a familial upset disease, which means in these patientsaa‚¬a„? organic structures are deficiency of thrombocytes that is used to organize a impermanent stopper to forestall farther hemorrhage. If persons have hemophilia, when they got hurts or surgeries that may do extra hemorrhage. Hemophilia even has three types ; hemophilia A, haemophilia B and hemophilia C, but hemophilia A and B are the most common seen in hemophilia patients ( Peyvandi et al. , 2006 ) . The former is due to the mutant of the blood curdling factor VIII cistron and around one of five 1000s male persons ( Yarovoi et al. , 2003 ) . The latter affects the blood curdling factor IX cistron around one of 25 1000 to thirty thousand male births ( Lin et al. , 1997 ) . All human existences have 23 braces of chromosomes, Factor VIII and factor IX cistrons are located to Xq28 and Xq27 of the long arm of the X chromosome. Furthermore, due to the flawed trait is carried on the X chromosome, it is called X-linked upset. It means if the female parent is a bearer who has hemophilia disease, she will convey the faulty X-linked cistron her progeny, they have a half opportunity inherited haemophilia ( Peyvandi et al. , 2006 ) . Hemophilia occurs in male births than female 1s, due to male has merely one X chromosome, so that the blemished cistron is expressed in any male who carries it. In order to understand the possible hazard of haemophilia, and infer the prevalence of the hemophilia disease, to place the mutant in the FVIII or FIX cistron is of import ( Peyvandi et al. , 2006 ) .


The PCR was invented by Kary Mullis in 1984, it was one of the singular innovations in the scientific field. It has influenced in many Fieldss such as nosologies and forensics in applied scientific discipline. Furthermore, the PCR technique can be used to observe the Deoxyribonucleic acid or RNA of infective beings, besides to be tested a broad scope of diagnosing of infective agents such as viruses and bacteriums ( Schaad and Frederick, 2002 ) .

The PCR trials have a figure of advantages which are superior to traditional antibody-based diagnostic methods such as mensurating the immune response to a pathogen. Furthermore, they enable to observe the mutated cistron in the familial disease diagnosing, for case, haemophilia.

By and large, there a figure of different methods can be used to name the familial haemophilia disease. First, household history analysis is besides called linkage analysis. Linkage analysis relies on the household history to judge the incidence of familial disease.Because of it has about 100 % truth, merely a small opportunity around 1 % hazard of abortion demands for recombination ( Tsui et al. , 2011 ) . But there is a restriction of utilizing linkage analysis which is that merely can be used to except the female carries position when a household with no old haemophilias history ( Peyvandi et al. , 2006 ) .

This information may non merely assist to analyze the type of haemophilias but may besides profit to persons who have a household history of haemophilia before they decide giving a birth.

Second, chorionic villi sampling ( CVC ) is the 1 of the most widely used methods to get foetal stuff for diagnostic intents. It is used to look into the foetal sex and so to analyze limb abnormalcies in gestational hebdomads 10-12. By and large, the sex consequence is being available within a twenty-four hours. Furthermore, In some instance, in order to name the fetal is affected with haemophilias or non, a farther mutant diagnosing may take five to seven yearss ( Ljung, 1999 ) . Unfortunately, if the fetal is diagnosed to be with haemophilia, the advantage of CVS is helpful to find ending the gestation during the first trimester or non.

Even though the sensing methods of familial disease diagnosing have been developed quickly, but there is still remains the trouble to observe the mutant allelomorphs which are inherited from a bearer female parent ( Tsui et al. , 2011 ) .

Since that, after legion clinical trials, the PCR is proved that can be successfully applied in the sensing of familial diseases, such as haemophilias ( Tsui et al. , 2011 ) .

The PCR allows to analyse DNA by utilizing a individual cell. It besides can be used for familial diagnosing by utilizing individual cells from embryos or familial recombination analysis by utilizing a individual sperm or oocyte ( Schaad and Frederick, 2002 ) .

For the farther the individual cistron defect sensing, it needs extremely accurate and sensitive elaboration program, frequently utilizing PCR or RT- PCR methods, because they are efficient plenty and able to observing every bit small as one or two mark double-stranded DNA molecules in a individual cell ( Handyside et al. , 2004 ) .

The PCR takes an advantage of natural DNA reproduction mechanisms to bring forth a Deoxyribonucleic acid sequence from a complicated mixture of heterogenous sequences ( Knowles et al. , 2008 ) .

The PCR can be used to magnify a specific part, the part can be really little bases or even a twosome of 1000 bases long which so being amplified to multiple times of duplicates.

Using the PCR is to trust the different stages at different temperatures to incubate and magnify DNA sequences. The first stage is denaturation. That changes the mark Deoxyribonucleic acid from two isolated templet to go a individual stranded one. In the tempering stage, it is utilizing lower temperature ( lower than runing temperature three to five grades ) to temper specific primers and so they are bound to the individual isolated templet. The extension is the 3rd stage, whereby the Deoxyribonucleic acid polymerase ( Tqp polymerase ) to rush DNA synthesis at an intermediate temperature. Once the mark DNA has been synthesized by the Taq polymerase to be a new stranded Deoxyribonucleic acid templet, the PCR rhythms will be repeated 20 to forty times, until the mark DNA sequence has been amplified ( Knowles et al. , 2008 ) .

This technique has about 100 % truth in the diagnosing of households with hemophilia A or B. Hemophilia A and B are caused by the curdling factor VIII ( F8 ) and factor IX ( F9 ) cistrons which are located on the X chromosome have become unnatural ( Tsui et al. , 2011 ) .

Hemophilia A is caused by the curdling FVIII cistron mutant. It is interesting to observe that there are near 50 per centums of haemophilia A patients are caused by one or more inversions of the F8 cistron. Harmonizing to ( Berg et al. , 1990 ) , they claimed that mutants which caused by haemophilia A are alone and distinct over the whole length of the F8 cistron. The PCR can be used to observe the inversions by elaboration of genomic DNA across the several breakage sites. The specificity of PCR which includes classical or real-time PCR, it depends upon specific and scheming PCR primers that are used to aim the inversion of F8 cistron ( Schaad and Frederick, 2002 ) .In assorted instances, the interruption points are found in the noncoding DNA 22 of the F8 cistron by PCR analysis ( Habart, 2005 ) . After that, utilizing the Southern smudge technique can analyze these inversions, moreover, that is possible to give more inside informations of bearers and antenatal diagnosing to about 50 per centums of the households are with terrible haemophilia A.

Recently, the PCR has been used widely because its cost and pertinence ( Peyvandi et al. , 2006 ) . However, it is excessively sensitive to fail so that samples should be purely controlled to avoid the taint with alien Deoxyribonucleic acid.

To sum up,

Available today for naming a smattering of upsets, including Cystic Fibrosis, in the hereafter PCR engineering may be used in prognostic tests-methods for happening out who is predisposed to common upsets, such as bosom disease and many malignant neoplastic diseases.

BERG, L.-P. , WIELAND, K. , MILLAR, D. , SCHL SSER, M. , WAGNER, M. , KAKKAR, V. , REISS, J. & A ; COOPER, D. 1990. Detection of a fresh point mutant doing haemophilia A by PCR/direct sequencing of ectopically-transcribed factor VIII messenger RNA. Human Genetics, 85, 655-658.

HABART, D. 2005. Molecular Diagnosis of Haemophilia A in Clinical Practice.

HANDYSIDE, A. H. , ROBINSON, M. D. , SIMPSON, R. J. , OMAR, M. B. , SHAW, M.-A. , GRUDZINSKAS, J. G. & A ; RUTHERFORD, A. 2004. Isothermal whole genome elaboration from individual and little Numberss of cells: a new epoch for preimplantation familial diagnosing of familial disease. Molecular Human Reproduction, 10, 767-772.

KNOWLES, D. , LI, H. & A ; PASTORET, P. 2008. Biotechnology in the diagnosing of infective diseases and vaccinum development

LIN, H.-F. , MAEDA, N. , SMITHIES, O. , STRAIGHT, D. L. & A ; STAFFORD, D. W. 1997. A Coagulation Factor IX-Deficient Mouse Model for Human Hemophilia B. Blood, 90, 3962-3966.

LJUNG, R. C. R. 1999. Prenatal diagnosing of hemophilia. Haemophilia, 5, 84-87.

PEYVANDI, F. , JAYANDHARAN, G. , CHANDY, M. , SRIVASTAVA, A. , NAKAYA, S. M. , JOHNSON, M. J. , THOMPSON, A. R. , GOODEVE, A. , GARAGIOLA, I. , LAVORETANO, S. , MENEGATTI, M. , PALLA, R. , SPREAFICO, M. , TAGLIABUE, L. , ASSELTA, R. , DUGA, S. & A ; MANNUCCI, P. M. 2006. Familial diagnosing of hemophilia and other familial hemorrhage upsets. Haemophilia, 12, 82-89.

SCHAAD, W. N. & A ; FREDERICK, D. R. 2002. Real-time PCR and its application for rapid works disease nosologies. 250-258.

TSUI, N. B. Y. , KADIR, R. A. , CHAN, K. C. A. , CHI, C. , MELLARS, G. , TUDDENHAM, E. G. , LEUNG, T. Y. , LAU, T. K. , CHIU, R. W. K. & A ; LO, Y. M. D. 2011. Noninvasive antenatal diagnosing of haemophilia by microfluidics digital PCR analysis of maternal plasma DNA. Blood, 117, 3684-3691.

YAROVOI, H. V. , KUFRIN, D. , ESLIN, D. E. , THORNTON, M. A. , HABERICHTER, S. L. , SHI, Q. , ZHU, H. , CAMIRE, R. , FAKHARZADEH, S. S. , KOWALSKA, M. A. , WILCOX, D. A. , SACHAIS, B. S. , MONTGOMERY, R. R. & A ; PONCZ, M. 2003. Factor VIII ectopically expressed in thrombocytes: efficaciousness in haemophilia A intervention. Blood, 102, 4006-4013.


I'm Ruth!

Would you like to get a custom essay? How about receiving a customized one?

Check it out