Autozygosity mapping in consanguineous Pakistani families identifies nine non-overlapping novel linkage intervals for autosomal recessive non-syndromic mental retardation (AR-NSMR); shows genetic heterogeneity for AR-NSMR
Psychological disturbance (PD) or cerebral dysfunction (CD) occupying several clinical areas having defining features of mental retardation. Currently we have designed to investigate heritable heterogeneity in Pakistani consanguineous couples with recessive autosomal intellectual abnormilaties. D...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Pakistan Medical Association
2021-05-01
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| Series: | Journal of the Pakistan Medical Association |
| Online Access: | https://www.ojs.jpma.org.pk/index.php/public_html/article/view/1468 |
| _version_ | 1797820632016093184 |
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| author | Shoaib-Ur-Rehman Raaza Malja Khan Rahmat Ali Khan Ishtiaq Hussain Noor Muhammad Muhammad Arif |
| author_facet | Shoaib-Ur-Rehman Raaza Malja Khan Rahmat Ali Khan Ishtiaq Hussain Noor Muhammad Muhammad Arif |
| author_sort | Shoaib-Ur-Rehman |
| collection | DOAJ |
| description |
Psychological disturbance (PD) or cerebral dysfunction (CD) occupying several clinical areas having defining features of mental retardation. Currently we have designed to investigate heritable heterogeneity in Pakistani consanguineous couples with recessive autosomal intellectual abnormilaties.
Department of Biotechnology UST-Bannu and WJC Panum institute University of Copenhagen Denmark from January 2017 to March 2019. Cohort of Three consanguineous families with multiple birth defects was selected from different regions of Pakistan for molecular analysis analysis. All affected individuals in the cohort showed mental disturbances. Deoxyribonucleic acid (DNA) was extracted and subjected to STS (Single tagged sequence) marker analyses to all known non syndromic autosomal recessive mental retardation (NS-ARMR) genes while autozygosity mapping was performed by advanced SNP techniques.
STS (Single tagged sequence) marker analyses showed exclusion to all known non syndromic autosomal recessive mental retardation (NS-ARMR) genes. Autozygosity mapping have shown novel nine linkage intervals.
Continuous...
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| first_indexed | 2024-03-13T09:41:07Z |
| format | Article |
| id | doaj.art-09b16a73de0b4b918efdc14b1418284e |
| institution | Directory Open Access Journal |
| issn | 0030-9982 |
| language | English |
| last_indexed | 2024-03-13T09:41:07Z |
| publishDate | 2021-05-01 |
| publisher | Pakistan Medical Association |
| record_format | Article |
| series | Journal of the Pakistan Medical Association |
| spelling | doaj.art-09b16a73de0b4b918efdc14b1418284e2023-05-25T04:24:33ZengPakistan Medical AssociationJournal of the Pakistan Medical Association0030-99822021-05-0171810.47391/JPMA.206Autozygosity mapping in consanguineous Pakistani families identifies nine non-overlapping novel linkage intervals for autosomal recessive non-syndromic mental retardation (AR-NSMR); shows genetic heterogeneity for AR-NSMRShoaib-Ur-Rehman 0Raaza Malja Khan1Rahmat Ali Khan2Ishtiaq Hussain3Noor Muhammad4Muhammad Arif5Department of Biotechnology, University of Science and Technology, Bannu, PakistanMayo Hospital, Lahore, PakistanDepartment of Biotechnology, University of Science and Technology, Bannu, PakistanDepartment of Genetics, Hazara University, Mansehra, PakistanDepartment of Biotechnology, University of Science and Technology, Bannu, PakistanDepartment of Biotechnology, Abdul Wali Khan University, Mardan, Pakistan Psychological disturbance (PD) or cerebral dysfunction (CD) occupying several clinical areas having defining features of mental retardation. Currently we have designed to investigate heritable heterogeneity in Pakistani consanguineous couples with recessive autosomal intellectual abnormilaties. Department of Biotechnology UST-Bannu and WJC Panum institute University of Copenhagen Denmark from January 2017 to March 2019. Cohort of Three consanguineous families with multiple birth defects was selected from different regions of Pakistan for molecular analysis analysis. All affected individuals in the cohort showed mental disturbances. Deoxyribonucleic acid (DNA) was extracted and subjected to STS (Single tagged sequence) marker analyses to all known non syndromic autosomal recessive mental retardation (NS-ARMR) genes while autozygosity mapping was performed by advanced SNP techniques. STS (Single tagged sequence) marker analyses showed exclusion to all known non syndromic autosomal recessive mental retardation (NS-ARMR) genes. Autozygosity mapping have shown novel nine linkage intervals. Continuous... https://www.ojs.jpma.org.pk/index.php/public_html/article/view/1468 |
| spellingShingle | Shoaib-Ur-Rehman Raaza Malja Khan Rahmat Ali Khan Ishtiaq Hussain Noor Muhammad Muhammad Arif Autozygosity mapping in consanguineous Pakistani families identifies nine non-overlapping novel linkage intervals for autosomal recessive non-syndromic mental retardation (AR-NSMR); shows genetic heterogeneity for AR-NSMR Journal of the Pakistan Medical Association |
| title | Autozygosity mapping in consanguineous Pakistani families identifies nine non-overlapping novel linkage intervals for autosomal recessive non-syndromic mental retardation (AR-NSMR); shows genetic heterogeneity for AR-NSMR |
| title_full | Autozygosity mapping in consanguineous Pakistani families identifies nine non-overlapping novel linkage intervals for autosomal recessive non-syndromic mental retardation (AR-NSMR); shows genetic heterogeneity for AR-NSMR |
| title_fullStr | Autozygosity mapping in consanguineous Pakistani families identifies nine non-overlapping novel linkage intervals for autosomal recessive non-syndromic mental retardation (AR-NSMR); shows genetic heterogeneity for AR-NSMR |
| title_full_unstemmed | Autozygosity mapping in consanguineous Pakistani families identifies nine non-overlapping novel linkage intervals for autosomal recessive non-syndromic mental retardation (AR-NSMR); shows genetic heterogeneity for AR-NSMR |
| title_short | Autozygosity mapping in consanguineous Pakistani families identifies nine non-overlapping novel linkage intervals for autosomal recessive non-syndromic mental retardation (AR-NSMR); shows genetic heterogeneity for AR-NSMR |
| title_sort | autozygosity mapping in consanguineous pakistani families identifies nine non overlapping novel linkage intervals for autosomal recessive non syndromic mental retardation ar nsmr shows genetic heterogeneity for ar nsmr |
| url | https://www.ojs.jpma.org.pk/index.php/public_html/article/view/1468 |
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