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Home > Genetic Exploration and Analysis of Autosomal Recessive Cataracts

Genetic Exploration and Analysis of Autosomal Recessive Cataracts

Thesis Info

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Author

Irum, Bushra

Program

PhD

Institute

University of the Punjab

City

Lahore

Province

Punjab

Country

Pakistan

Thesis Completing Year

2018

Thesis Completion Status

Completed

Subject

Molecular Biology

Language

English

Link

http://prr.hec.gov.pk/jspui/bitstream/123456789/10652/1/Bushra%20Irum_Molecular%20Bio_2018_UoPunjab_PRR.pdf

Added

2021-02-17 19:49:13

Modified

2024-03-24 20:25:49

ARI ID

1676726299029

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The present work was designed to identify the genetic causes of autosomal recessive cataracts in consanguineous families from Pakistan. For this purpose, twenty five families were identified from different areas of Pakistan mainly from south Punjab. Blood samples were collected and DNAs were extracted for all the samples. Exclusion analysis was performed on genomic DNAs to exclude known genes/loci for recessive cataracts using the traditional homozygosity mapping technique. Three families were found linked to previously reported regions on different chromosomes. Family PKCC185 was found linked to chromosome 22q11.23 harboring CRYBB3, CRYBB1, CRYBA4, and CRYBB2 genes. A maximum two point logarithm of odds score of 3.0 was calculated with markers D22S1174, D22S419 and D22S315 at θ = 0. No causative mutation was found in CRYBB1, CRYBB2 and CRYBA4 genes. Sanger sequencing of CRYBB3 gene in this family identified an already reported missense mutation. In family PKCC214 cataract phenotype was found linked to chromosome 19q13.41. A maximum two point logarithm of odds score of 3.25 was calculated with markers D19S572 and D19S589 at θ = 0. This region harbors LIM2, an already reported gene in cataracts. Sanger sequencing of the gene revealed a novel missense mutation. In another large consanguineous family PKCC215; linkage was found in a region on chromosome 6p24.3-24.2harboring GCNT2 gene with a maximum two point LOD score of 5.78 with marker D6S470 at θ = 0. PCR amplification for the Sanger sequencing of GCNT2 gene coding exon failed in affected individuals of PKCC215 thus indicating a large DNA deletion. Chromosomal walking and exome sequencing data analysis led to the identification of approximately 190 kb deletion resulting in excision of all the coding exons of GCNT2 gene. Failure to amplify the deletion breakpoints indicated a complex chromosomal rearrangement at this region most probably presence of an insertion in addition to the large DNA deletion. In linkage analysis, PKCC206 was found linked to a region on chromosome 1p36.13. A maximum two point LOD score of 3.36 was calculated with the marker D1S2672 at θ = 0. This region on chromosome 1p harbors EPHA2 gene. Sanger sequencing of coding exons of the genes did not reveal any causative variation. Thus a novel locus of cataract was identified on chromosome 1p36.13. Another family PKCC212 was found linked to a region on chromosome 22q11.23 with a maximum two point LOD score of 2.51 with marker D22S315, harboring cluster of crystalline genes including CRYBB3, CRYBB1, CRYBA4, and CRYBB2. No causative variation was found in CRYBB3, CRYBB1 and CRYBA4. While Sanger sequencing of CRYBB2 gene resulted in identification of a large DNA deletion. Interestingly this gene has been previously reported in autosomal dominant cataracts where it was responsible for causing cataracts in heterozygotes. While in case of PKCC212 heterozygous carrier were normal completely. Genome wide scan with MD-10 panel was done on two cataract families: PKCC208 and PKCC216. In PKCC208 a novel locus on chromosome 17p12 was identified. A maximum two point LOD score of 6.01 was calculated at recombination fraction of zero with marker D17S938. This study reports two novel and a previously reported mutation in known cataract genes in three consanguineous families. Furthermore this study also identified two novel loci and a novel gene in three consanguineous families responsible for cataracts.

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عطا اﷲ عطاؔ قاضی

                عطا اﷲ عطاؔ قاضی (۱۹۳۴ء پ) محلہ ٹلہ پسرور میں پیدا ہوئے میٹرک کے بعد منشی فاضل کا امتحان پاس کیا۔ آرٹس میں ڈپلومہ سنٹرل ٹریننگ کالج لاہور سے کیا۔ شہر فہمی اور شعر گوئی کے علاوہ قاضی عطا نثر نگاری ، مصوری ،فوٹو گرافی اور خوش نویسی کے فن میں بھی ماہر ہیں۔(۱۲۰۹)

                آپ کے مزاج میں ادبی چاشنی رچی بسی ہے۔آپ کے شعری مجموعے ’’فراز سخن‘‘، (سورہ بقرہ کا منظوم ترجمہ) ،’’اعزازِ سخن‘‘،( توحیدی آیات کا منظوم ترجمہ)’’اعتزاز سخن‘‘،( سورہ نسا ،مائدہ کااورسورہ توبہ کا منظوم ترجمہ)’’رازِ سخن‘‘ ، (پارہ عم کا منظوم ترجمہ)’’امتیاز سخن‘‘( سورہ مائدہ کا منظوم ترجمہ) ناز سخن (حمد ونعت ،قرآنی دعائیں ،منظوم ترجمہ)اور ’’اشکوں کی لو ‘‘(غزلیہ مجموعہ ) ادبی سبھا پسرور سے شائع ہو چکے ہیں۔ ان شعری مجموعوں کے علاوہ قاضی عطا کا سب سے بڑا کارنامہ ’’مفہوم القرآن ‘‘کے نام سے قرآن مجید کا مکمل منظوم ترجمہ ہے۔

                 یہ ترجمہ تین ہزار صفحات کی ضخامت اور تین جلدوں پر مشتمل ہے۔ اب تک ’’مفہوم القرآن ‘ ‘ کے دو ایڈیشن شائع ہو چکے ہیں۔ قاضی عطاؔ کا قلم کسی ایک موضوع الہیات کے موضوع ہی کا محتاج نہیں رہا ۔ اس کا خامہ زرفشاں زندگی کے ہر پہلو پر رواں رہا ہے۔ الہیات کے موضوع کو ملاحظہ کریں کس خوبصورت انداز سے اس کا اظہار کرتے ہیں:

لاکھ پردوں میں بھی ہے بے پردہ

 

1کل ہے اجزا میں آشکارا ہے

 

â۱۲۱۰)

 

 

 

 

ہر آئینہ جزو میں جلوہ نما ہے کل

 

پنہاں ہے گو نظر سے مگر وہ کہاں نہیں

مسلم عائلی قوانین آرڈیننس ۱۹۶۱ء کی دفعہ ۴ (یتیم پوتے وغیرہ کی میراث) : اسلامی احکام کی روشنی میں تحقیقی جائزہ

Issues of inheritance have been thoroughly maintained in the Holy Quran and Sunnah. As per these injunctions, the principle of AL’Aqrab fal’aqrab “the closest in kin” is to be observed. According to these principles, grandchildren, even though orphaned, have no right to inherit grandfather in the presence of direct children. On the other hand, section 4 of Muslim Family Laws, 1961 grants a share to orphaned grandchildren from the inheritance of his grandfather. Whereas, as per the constitution, no law can be enacted which is repugnant to the injunctions of the Holy Quran and Sunnah, now, whether the above mentioned section is in conformity with the injunctions of the Holy Quran and Sunnah or not is to be treated properly. If not, so from which perspective, it is repugnant to the Islamic Injunctions? These questions have been analysed critically in this paper and finally it has been concluded that section 4 of Muslim Family Laws Ordinance, 1961 contrasts with the injunctions as laid down in the Holy Quran and Sunnah.

Genetic Analysis for Morpho-Yield and Seed Quality Traits in Rapeseed Brassica Napus L.

Edible oil is main import of Pakistan and its bill costs 2 billion US$ annually. To overcome this problem, emphasis needs to be focused on developing of new high yielding oilseed cultivars. To achieve this goal, information regarding genetic diversity, underlying gene action, development and assessment of hybrids are pre-requisite of breeding program. Keeping in view the edible oil situation in the country this study was conducted to determine genetic analysis for important traits in rapeseed (Brassica napus L.) using 8 × 8 diallel design at the University of Agriculture-Peshawar during 2011-2014. Parental lines and their F1 and F2 progenies were evaluated in two separate experiments to do F1 and F2 diallel analysis. Analysis of variance revealed highly significant differences for all studied parameters in parents and F1 generation. Based on mean performance best parents were AUP-7, AUP-2, AUP-14 and AUP-18 for important traits. Among F1 hybrids, AUP-7 × AUP-14, AUP-2 × AUP-7, AUP-7 × AUP-2, AUP-9 × AUP-17, AUP-9 × AUP-2, AUP-17 × AUP-8, AUP-14 × AUP-7 and AUP-18 × AUP-7 performed better. Mean squares due to general combining ability (GCA), specific combining ability (SCA) and reciprocal combining ability (RCA) were found highly significant for all the parameters indicating the importance of both additive and non additive gene action. On the basis of GCA, parental lines, AUP-7, AUP-2, AUP-18 and AUP-17 were found best combiners. Among F1s, desirable SCA effects were shown by AUP- 7 × AUP-14, AUP-8 × AUP-9, AUP-17 × AUP-18, AUP-14 × AUP-20, AUP-2 × AUP-9, AUP-2 × AUP-18, AUP-2 × AUP-18, AUP-2 × AUP-14, AUP-2 × AUP-17 and AUP-2 × AUP-9. Desirable negative mid and better parent heterosis were exhibited by AUP-18× AUP- 8 for flowering and AUP-8 × AUP-9 for maturity. Maximum positive heterosis was recorded by AUP-8 × AUP-17, AUP-9× AUP-2, AUP-20 × AUP-2, AUP-2 × AUP-8, AUP-14 × AUP- 2, AUP-14 × AUP-8 and AUP-14 × AUP-17 for morphological traits. However for oil quality traits best crosses were AUP-9× AUP-20, AUP-20 × AUP-17, AUP-7 × AUP-14 and AUP-18 × AUP-2, AUP-9 × AUP-2, AUP-7 × AUP-18and AUP-2 × AUP-7. Best performing parents and crosses could be an asset for future breeding programs. The data of F2 generation revealed significant genotypic difference for all traits. Among F2 populations, best performer were AUP-7 × AUP-17, AUP-17 × AUP-18, AUP-9 × AUP-17, AUP-18 × AUP-9, AUP-2 × AUP-14 and AUP-20 × AUP-14 for morpho-yield traits. F2 populations AUP-8 × AUP-7, AUP-2 × AUP-18, AUP-7 × AUP-8, AUP-9 × AUP-18 and AUP-14 × AUP-20 were superior for oil quality traits. Mode of gene action in F2 generation vi vii 17 for seed per pod, pod length, pods plant-1, 1000 seed weight seed yield plant-1 and quality parameters (oil, protein, oleic and linolenic acid) revealed that additive dominance was adequate (partially). The model was fully adequate for rest of the traits. Hayman analysis revealed both additive and non additive gene actions for all the traits. Estimates of genetic components showed significant and higher magnitude of additive variances for flowering, maturity and plant height, whereas for rest of the traits dominance was significant and higher in magnitude. Inequality of H1 and H2 revealed asymmetrical (uneven) distribution of genes among the parental lines (H2/4H1<0.25). From Vr/Wr graph, negative intercept of the regression line and average degree of dominance values and H1> D revealed that over dominance was responsible for all traits except flowering, maturity and Plant height for which partial dominance (D>H1) was observed. The scatter of array point on the regression lines for studied traits suggested that parental lines were diverse and could be used in future rapeseed quality breeding programs. From the estimation of genetic components of variation and low narrow sense heritability except for days to flowering, maturity and Plant height it is clear that non additive type of gene actions were more important in effecting the variation for all the traits. To exploit both additive and non-additive gene actions as observed under the present investigation, bi-parental mating and inter se crossing between suitable lines following reciprocal recurrent selection may be useful to develop high yielding and early maturing lines. Keywords: Rapeseed, Brassica napus, diallel analysis, genetic analysis, combining ability, gene action, heterosis, heritability,