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Mutationalscreening of Thalassemia Affected Families in Rahim Yar Khan

Thesis Info

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Author

Aisha Sana

Institute

Virtual University of Pakistan

Institute Type

Public

City

Lahore

Province

Punjab

Country

Pakistan

Thesis Completing Year

2019

Thesis Completion Status

Completed

Subject

Software Engineering

Language

English

Link

http://vspace.vu.edu.pk/detail.aspx?id=322

Added

2021-02-17 19:49:13

Modified

2024-03-24 20:25:49

ARI ID

1676721023364

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Thalassemia is an autosomal recessive blood disorder, and this is the second most abundant genetic disorder, of which 50% of patients are from the Southeast Asian region. Beta-Haemoglobin (HBB) gene carries the mutation, and the alteration in the HBB gene sequence results in the abnormal functioning of oxygen-carrying hemoglobin molecules. This study was conducted on the 20 affected families of Thalassemia after their consent. Blood samples were collected. Then DNA was extracted using a standard organic method with some modifications. Primers for the exonic and intronic region of the HBB gene were designed and amplified following PCR protocol. Amplicons were sequenced for mutation detection using bioinformatic tools. The previous researches show that incorrect intronic and exonic splicing lead the thalassemia to reach at worst condition due to defect in mutation. The Human Splicing Finder (HSF) tool, BLAST tool from NCBI website, and Bioedit software have been used for analyzing the sequence and variations at positions. Five different samples of the HBB gene showed differences in different locations of exon and intron. HBB Exon 1 Sample 1 has intronic change with variation in base change position c269+5 on an amplified fragment from G>C. HBB Exon 1 Sample 2 has exonic change with variation in base change position c185 on an amplified fragment from T>C of nucleotide change, and codon replacement occurs at position CAT>CAC as amino acid p.His does not change. HBB Exon 1 Sample 3 has intronic change with variation in base change position c269+5 on an amplified fragment from G>C. HBB Exon 1 Sample 4 has exonic change with variation in base change position c185 on an amplified fragment from T>C of nucleotide change, and codon replacement occurs at position CAT>CAC as amino acid p.His does not change. HBB Exon 2 Sample 5 has intronic change with variation in base change position c491+16 on an amplified fragment from G>C. Graphical Representation and chromatogram of Potential splice site are showing intronic and exonic variations at the position. G replaces C in samples of intronic variation & T replaces C in samples of exonic variation. Change in sequence alignment is observed at different positions in samples of exons and introns. This study concludes that the change in the HBB gene is observed as well as intronic, and exonic splicing can lead thalassemia from severe to mild.
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3. Aal-‘Imran/Family of Imran

3. Aal-‘Imran/Family of Imran

I/We begin by the Blessed Name of Allah

The Immensely Merciful to all, The Infinitely Compassionate to everyone.

03:01
Alif. Lam. Mim.

03:02
Allah - The One and Only God.
There is no entity of worship apart from HIM.
Allah - the Ever-Living, the Eternal,
Allah – the Self-Subsisting, giving life and sustenance to every existence.

03:03
HE has sent down on to you – O The Prophet - The Book with the Truth
in confirmation of what was before -
HE had sent down both the Torah and the Injeel/Bible, beforehand -

03:04
- as a source of guidance for people, and
HE has now revealed a standard for distinguishing right from wrong – The Qur’an.
As for those who deny and belie the Messages of Allah deliberately, for them will be a punishment, most severe,
for Allah is All-Powerful and Immensely Vengeful.

03:05
a. Truly, nothing is hidden from Allah within the terrestrial world and the celestial realm.

03:06
It is HE WHO forms and gives you a shape in the womb of your mother as HE Wills.
There is no entity of worship apart from HIM.
HE is All-Powerful and All-Wise.

03:07
It is HE WHO has sent down The Book of the Qur’an on to you, O The Prophet.
Among its Messages are some literal.
These Messages are the Foundation of the Book.
However, there are also some Messages which are metaphorical and symbolic - open to a variety of meanings and interpretations.
Those who are twisted of mind and infected with viciousness look for Messages which are metaphorical and symbolic,

Information Management From the Interpretation of Al-Quran: Study on Tafsir Nur Al-Ihsan

The development of works in the field of Quranic interpretation has grown rapidly in this age. The work in this field has been written in various major languages of the world such as Arabic, English and Malay. The resulting works contain a lot of information quoted from the works written by previous authors. For example, the work of Tafsir Nur al-Ihsan written by Muhammad Said Omar contains a lot of information quoted from Tafsir al-Jalalyn, Tafsir al-Baydawi and Tafsir al-Jamal. Nevertheless, this study found that the information was widely quoted by the author until there was an inaccurate information being referred to by him. Therefore, a method or system should be practiced so that the information contained in the work of Tafsir Nur al-Ihsan can be managed well as well as avoid the mistakes of readers. One way to manage these resources is to identify the original work referred to by the author. The analysis of Tafsir Nur al-Ihsan used the genetic approach which was published by Goldman in studying the origin of the resources. This study referred the text from Tafsir Nur al-Ihsan and the texts of works that became author's references, which are Tafsir al-Jalalyn, Tafsir al-Jamal, Tafsir al-Baydawi, Tafsir al-Khazin, Tafsir al-Baghawi, Tafsir al-Tabari, Tafsir al-Qurtubi, Tafsir al-Razi, Tafsir al-Nasafi, Tafsir Ibn Kathir and Tafsir al-Tha’labi, and made a comparison of the texts to detect the similarities and differences. The result of the analysis proved that Syeikh Muhammad Sa’id implemented five methods; which are quoting the text in parallel, writing an abstract, removal of some of the words, adding explan-ation, and refuting part of the text. This study also revealed the purpose of Syeikh Muhammad Sa’id while creating his work is to strengthen the translations written. Thus, he successfully strengthens translation when the contents of the text are parallel to the reference. However, in certain places existed a text from the author's references contradicts with the content of Tafsir Nur al-Ihsan, which failed his attempt to strengthen the translation in certain part of the text. Key words: , , .

Soil Boron Forms Distribution and its Management in Apple Orchards of Pishin, Baluchistan.

Boron is one of the essential micronutrients for the plants. Availability of boron to the plant is affected by various boron forms and distribution. Understanding boron chemistry, knowledge of boron forms distribution and their relation to soil properties are indispensable. The contribution of various soil boron forms resulting in its availability, spatial variability and boron fertilization in the apple orchard has never been extensively examined in arid elevated plains of Baluchistan province. It was hypothesized that soil properties affect on soil boron forms distribution and yield and quality of apple. The objectives were to (i) establish the relationship between physico-chemical properties and soil B forms, (ii) evaluate the spatial variability of various boron forms in the surveyed area, (iii) assess the impact of boron fertilization on yield and quality of apple. Ninety georeferenced soil samples from apple orchards of surface and subsurface were collected from Pishin, Baluchistan. Seventy to eighty foliage samples from nonfruit bearing terminals of associated trees were collected. The soil was characterized for pH, CaCO3, organic matter, texture and extractable boron. Soil boron was fractionated into readily soluble, specifically adsorbed, oxide bound, organically bound and residual. A field experiment was carried out at three Bdeficient locations (Barshore, Hurmzae, Khanozae). Variable soil boron rates, i.e., 0, 10, 12, 14 and 16 g tree-1 with the basal recommended dose of N, P and K were applied. Extractable boron was positively influenced by soil organic matter and clay content. Readily soluble was positively correlated with clay and soil organic matter while specifically adsorbed showed positive influence with clay content. Oxide bound, organically bound and residual boron were related positively by clay and organic matter. Regression equation relating to boron forms with soil properties revealed that soil pH, CaCO3, organic matter and clay account the variability in soil boron forms. Spatial structure of sand, silt, clay, organic matter, pH, calcium carbonate and extractable boron were best described by the spherical model indicating medium spatial dependence while clay exhibited strongly spatial dependent on surface and subsurface soil respectively. Best fitted semivariogram model for boron forms (readily soluble, specifically adsorbed, oxide bound and residual B) was spherical with moderate spatial dependence on surface and subsurface soil while organically bound form revealed higher spatial dependence. Results of the field trial indicated that 14 g B tree-1 fertilization increased fruit yield (32.8 %), weight (9.6 %) size (7.7 %), total soluble solids (18.5 %), fruit firmness (9.6 %), fruit boron (16.6 %) and leaf boron content (32.6 %). Trees fertilized with16 g B tree-1 had the higher fruit number (19.4 %). Boron application resulted in a decrease of titratable acidity.