Study Of Autosomal Recessive Non Syndromic Mental Retardation Locus By Linkage Analysis
By: Sajjad Ali Shah
| Prof.Dr.Masroor Elahi Babar.
Contributor(s): Dr. Aftab | Mr. Tanveer Hussain.
Material type: 
BookPublisher: 2010Subject(s): Institute of Biochemistry & BiotechnologyDDC classification: 1162,T Dissertation note: Mental retardation (MR) is the retarded conditions of mind in which the intelligence quotient (IQ) is lower than 70, associated with a deficiency in adaptive behavior such as communication and daily living skills. Mental retardation is either the only consistent handicap (non-syndromic) or is combined with other physical and br behavioral abnormalities (syndromic). It is one of the most common disorders and it affects about 1-3% of the human population, with a proportion higher in males than females. In the present study 10 families with two or more affected individuals were selected from different areas of Malakand Division and district Mardan of Khyber Pakhtunkhwa. Family history was taken and pedigrees were made personally by visiting the families and using specially designed proformas after their consent. The blood was collected from the selected families aseptically. Then DNA was extracted by standard inorganic protocol. Short Tandem Repeat (STR) markers (D3S3630,
D3S3050, D3S1620) in vicinity of MR locus (MRT2CRBN gene) were selected, optimized and amplified by Polymerase Chain Reaction. The affected families were screened for linkage to MRT2A locus using Polyacrylamide Gel Electrophoresis (PAGE). The haplotypes were then constructed to determine the linkage of families to MRT2A locus. Out often selected families two families (MR-02 and MR-07) showed linkage to autosomal recessive nonsyndromic mental retardation locus MRT2A. This is the first report of MRT2A phenotype linkage in families from Malakand Division where consanguineous marriages are very common. Further study is needed to explore the other linkages in mentally retarded families in local population. The present study will help us to determine the genetics basis of mental retardation in affected families of Pakistan. It will also help us to screen out carrier individuals in our population that would help to develop genetic counseling strategies to prevent the progression of mental retardation in the country.
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Thesis
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UVAS Library Thesis Section | Veterinary Science | 1162,T (Browse shelf) | Available | 1162,T |
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Mental retardation (MR) is the retarded conditions of mind in which the intelligence quotient (IQ) is lower than 70, associated with a deficiency in adaptive behavior such as communication and daily living skills. Mental retardation is either the only consistent handicap (non-syndromic) or is combined with other physical and br behavioral abnormalities (syndromic). It is one of the most common disorders and it affects about 1-3% of the human population, with a proportion higher in males than females. In the present study 10 families with two or more affected individuals were selected from different areas of Malakand Division and district Mardan of Khyber Pakhtunkhwa. Family history was taken and pedigrees were made personally by visiting the families and using specially designed proformas after their consent. The blood was collected from the selected families aseptically. Then DNA was extracted by standard inorganic protocol. Short Tandem Repeat (STR) markers (D3S3630,
D3S3050, D3S1620) in vicinity of MR locus (MRT2CRBN gene) were selected, optimized and amplified by Polymerase Chain Reaction. The affected families were screened for linkage to MRT2A locus using Polyacrylamide Gel Electrophoresis (PAGE). The haplotypes were then constructed to determine the linkage of families to MRT2A locus. Out often selected families two families (MR-02 and MR-07) showed linkage to autosomal recessive nonsyndromic mental retardation locus MRT2A. This is the first report of MRT2A phenotype linkage in families from Malakand Division where consanguineous marriages are very common. Further study is needed to explore the other linkages in mentally retarded families in local population. The present study will help us to determine the genetics basis of mental retardation in affected families of Pakistan. It will also help us to screen out carrier individuals in our population that would help to develop genetic counseling strategies to prevent the progression of mental retardation in the country.
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