Author name:
فله عبد الستار
Supervisor name:
فائزة عبد الوهاب احمد | اسعد يحيى عايد
Abstract:
Considered the thyroid glands task Deaf which produces important hormones are Tri iodothyrosine T3 and Thyroxin T4 and is responsible for their production a number of genes that encode the enzymes and proteins and the occurrence of any defect in this gene lead to the emergence of disorders of the thyroid work, including the case of palaces and fragments in hyperthyroid through the emergence of different pathological symptoms that indicate the occurrence of one of the cases studied in this research gland disorders at the level of molecular genetics .The study included only females were collected blood samples from 70 patients divided into 35 blood samples of the state of palaces and 35 blood samples for the case of the bulk in hyperthyroid deaf and diabetes endocrine centers of hospitals and ports Fayhaa year and Qurna, as well as from laboratory d. Nizar Mahfouz and represented a group of patients and 20 blood samples from healthy people represented as a set of control and that during the period from April to September 2013. But has been working on a sample of 70 patients (35 blood samples by the state of palaces and 35 blood samples for the case of the bulk gland) to add to the 20 blood samples of control and ages of the two groups and the healthy range (12 - 60 years).DNA was extracted DNA of two and three encoded amplified regions (8, 9 and 14) for the TPO gene and encoded region tenth TSHR gene PCR technology after it was diagnosed and analysis of mutations using the method for Sequences .The results showed the presence of two types of changes in the TPO and TSHR genes , two polymorphism (SNP) and Mutation, in gene156TPO study found hereditary forms c.1117G> T, A372S and c.1194G> C, S398T in the two groups of patients and healthy and not they relate to the occurrence patients palaces gland activity, as the study diagnosed 12 Novel Mutation in exon 8 in 21 patients hypothyroidism as compared to control (who did not appear to have any kind of mutations diagnosed) and that all mutations diagnosed are mutations bitmap compensatory (substitution) the type of guarantee or Transtion Transversion depending on the nature of the base mutant, five of the mutations are Missense Mutation in 11 infected condition limitations are as follows c.949A>G,M317V , c.1064G>A,R355H, c.1277C>G,A425G , c.1063C>A,R355S and c.1207C>A,L402M and seven silent mutation in 10 patients hypothyroidism c.1062G>A,A354A , c.1050C>A,L350L , c.843C>A,A281A , c.1101G>A,V367V, c.1143C>T,I381I , c.1071G>A,R357R and c.2406C>T,D802D , While the results did not show any difference in the analysis of the genetic sequence of the two exons 9 and 14 at comparable with the genetic sequence of the control group. In this study suggests that there may be a correlation between the occurrence of mutations in a gene TPO and the state hypothyroidism . The results of the current study showed that the gene TSHR has an impact in both cases, and shortcomings in fragments in the activity of the gland where the study found three types of polymorphism (SNP) of the two of them Non - Synonymous type c.2181G> C, E727D and c.1489G> C, A496P and shape The last of the silent type genetic c.1377G> A, A459A, as the results showed that the two forms hereditary c.2181G> C and c.1489G> A have no correlation to happen disorders and are globally registered the shape genetic c.1489G> C, A496P did not score previously has current study for the first time and may have a link to happen one of the disorders depending on the genetic predisposition of the individual . I found the157current study, seven Novel Mutation in exon 10 distributed to five mutations among patients hypothyroidism as compared to control (who did not appear to have any kind of mutations diagnosed) and that all the mutations diagnosed are mutations bitmap compensatory (substitutive Substitution) to ensure the kind of Transtion or Transversion depending on the nature of the base mutant 'three mutations are Missense Mutation in 3 people with the status of the palaces and the proportion of each mutation them (20%) are as follows c.1330 T>C , Y444H ; c.1424 T>C ,L475P and c.1435 T>C , S479P and two silent mutation in patients hypothyriodism c.1338 G>A, L446L and c.2300 G>A , Untranscrib , While the results recorded and there is only Tafrtin in the case of the bulk in hyperthyroid by (5.71%), one Missense mutation (c.1832 C> A, P610Q) and the other is silent (Silent) (c.2103 C> A, R701R). The present study indicated that the probability of the occurrence of the disease mutations link through the site mutations in specific areas to link hormone catalyst and the interaction between the Receptor and the unity of secondary alpha (G - protein). Results of the current study also showed that mutations identical and disparate factors have an impact on events in the case of deficiencies, genetic gland activity in the TPO and TSHR through defect events and constructed partially or wholly in the function of the protein encoded by genes TPO and TSHR
