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Statistical Tests for the Analysis of Human Genetic Linkage

Thesis Info

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Author

Khan, Sajjad Ahmad

Program

PhD

Institute

University of Peshawar

City

Peshawar

Province

KPK

Country

Pakistan

Thesis Completing Year

2010

Thesis Completion Status

Completed

Subject

Statistics

Language

English

Link

http://prr.hec.gov.pk/jspui/bitstream/123456789/12245/1/Sadaf%20Manzoor%20Statistics%202010%20uni%20of%20peshwar%20prr.pdf

Added

2021-02-17 19:49:13

Modified

2024-03-24 20:25:49

ARI ID

1676727237598

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There are many tests of inheritance based upon sibling information for diseases that have late onset. The N-test (Green et al. 1983) is one of these tests, which utilizes information from affected siblings. The N-test is the count in affected siblings of the most frequently occurring haplotype from the father plus the analogous count from the mother. When applied to haplotypes, the N-test excludes recombinant families from the analysis and assumes that parental genotypes are heterozygous. But in real world data sets, generally in Asia and particularly in Pakistan, the case of heterogeneity of parents genotyping were not exist and therefore recombinant families are found more frequently. In this study we modified the N-test to be based on alleles instead of haplotypes. This modified allele-based N-test can include all families (recombinant as well as nonrecombinant). We carried out a simulation study to compare the power of the allele-based N-test with the powers of the S a l l and S p a i r s nonparametric statistics as computed by MERLIN. The powers of the allelebased N-test, S a l l and S p a i r s statistics are identical to each other for iii affected sibships of size 2 and 3. For affected sibships of larger sizes, the powers of the S a l l and S p a i r s statistics are larger than the power of allelebased N-test. These simulation-based results are consistent with earlier results based on analytical computations. Gene-mapping studies regularly rely on examination for Mendelian transmission of marker alleles in a pedigree, as a way of screening for genotyping errors and mutations. For analysis of family data sets, it is usually necessary to resolve or remove the genotyping errors prior to analysis. At the Center of Inherited Disease Research (CIDR), to deal with their large-scale data flow, they formalized their data cleaning approach in a set of rules based on PedCheck output. We examine via carefully designed simulations that how well CIDR’s data cleaning rules work in practice. We found that genotype errors in siblings are detected more often than in parents for less polymorphic SNPs and vice versa for more polymorphic SNPs. Through computer simulation, we conclude that some of the CIDR’s rules work poorly in some situations and we suggest a set of modified data cleaning rules that may work better than CIDR’s rules.
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سلطان کھاروی دی حیاتی

سلطان کھاروی دی حیاتی

جنم

سلطان کھار وی 1965ء نوں پنڈ کھارا ضلع گوجرانوالاوچ پیدا ہوئے ۔

خاندانی پچھوکڑ

ساڈا پیارا دیس جیہدا ناں چوہدری رحمت علی نے رکھیا جیہدا سفنا علامہ اقبال نے ویکھیا تے جینہوں وجود وچ لیائون لئی قائد اعظم محمد علی جناح نے اپنیاں نیندراں دی قربانی دتی ۔ پاکستان تے بن گیا پر ظلم ایہہ ہویا جے پنجاب وچ لکیر مار دتی گئی ۔پنجاب د و ٹوٹے ہو گیا۔اک مشرقی تے اک مغربی پنجاب، جیہدے وچ اسیں تسیں رہندے آں ۔مشرقی پنجاب دے  مشہو ر ضلعے جالندھردے پنڈ تلوں دے نیڑے تیڑے ایہہ پنڈ اج وی موجود اے ۔ اوس پنڈ دا ناں اے کوٹ بادل خاں ۔بادل خاں کوئی سر کڈھ پٹھان سی جیہدی قبر اج وی کوٹ بادل خاں وچ موجود اے ۔ایس کوٹ بادل خاں توں 1947ء دی ونڈ مگروں اک خاندان ہجرت کر کے پاکستا ن آ یا ۔خاندان دے وڈے داناں سی (چوہدری بوڑا)جیہڑے سلطان کھاروی دے دادا سن ۔ چوہدری بوڑا 1958ء وچ فوت ہو ئے ۔اوہناں نوں کھارے دا نمبر دار بنا دتا گیا سی ۔ اوس سمے جدوں لوکائی اپنے اپنے ساکاں انگاں دی تلاش وچ ایدھر اودھر بھٹکدی پھر دی سی ۔

سلطان کھار وی دا پنڈ کھارا

ضلع شیخوپورہ دے مشہور پنڈ جنڈیا لا شیر خاں توں شمال نوں جائیے تے باراں تیراں کلومیٹر تے اک پنڈ اے ۔جدوں پاکستان بنیا تے ایس پنڈ وچ کوئی سو گھر وی نئیں سی ۔ایس پنڈ دا ناں اے ’’کھارا ‘‘ایہہ پنڈ ضلع گوجرانوالادی حدود وچ اے تے پنڈ کھارا وچ لنگھن والی سڑک سدھی گوجرنوالا دے اعوان چوک نال جا لگدی اے ۔

 

چوہدری بوڑا دی آل اولاد

Infant and Young Child Feeding Practices among Mothers in Lahore, Pakistan: A Cross-Sectional Study

Background: Inadequate child feeding practices lead to malnutrition, higher under-five mortality rates and adverse effects on quality of life. This study aimed to assess the breastfeeding and complementary feeding practices of mothers as well as the influence of various sociodemographic factors on them in local families of Lahore. Methods: This is a cross-sectional, descriptive study. It was conducted in CMH (Combined Military Hospital), Lahore in 2018. It comprises a sample of 203 mothers with children of at least two years of age, from various urban areas of Lahore. The subjects were selected on the basis of the inclusion criteria. Mothers with psychiatric illnesses and children with congenital anomalies were excluded from the study. Mothers were approached in the paediatric outpatient departments of four tertiary care hospitals of Lahore. Responses were recorded using a modified version of the Action Contre La Faim (ACF) questionnaire. Independent sample t-test and chi-square test were applied for analysis of the data. Results: Early initiation of breastfeeding within one hour from birth was observed in 83.3% children. Most children were administered colostrum (69.5%). The rate of exclusive breastfeeding for the first six months was 45.3%.  A child was being breastfed 8.21 ± 6.67 (mean ± SD) times a day. Maternal educational status, total number of adults in a household, and access to free healthcare were identified as important factors influencing the practice of breastfeeding. Porridge, khichdi, eggs, fruit and yoghurt were the most frequently used complementary foods. Conclusions: A high rate of an early start of breastfeeding and a low rate of exclusive breastfeeding for at least six months were predominant in our population. Administration of colostrum was observed in approximately two-thirds of the study participants. Education of the mother, type of the family system (nuclear or combined), and access to free healthcare strongly influence the breastfeeding practices.

Improving Teaching of Paragraph Writing Through Participatory Action Research

The purpose of this Participatory Action Research (PAR) study was to improve the teaching of paragraph writing in an English language class by involving the students in a systematic process of writing paragraphs, using the process writing approach by white & Arndt, 1991. The PAR study was conducted in a lower secondary class at a community based Engtish medium school, where English is taught as a second language (ESL).The methods of PAR happened in the four moments of Action Research (AR), namely; reflection, planning, action and observation adopted from the Spiral model of AR by Kemmis, Mc Taggart and Rettalick (2004). This AR model provided an experience and autonomy of constantly evaluating the teaching strategies and their implementation in the class. The data of the study was collected through classroom teaching sessions, observations, field notes and document analysis to obtain empirical evidences of the existing practices and insights. Moreover, focused group semi-structwed interviews with the students helped in the data generation. Also, a reflective journal was maintained throughout the study to acquire a rich vignette of the research study. The findings processed through data analysis by arranging the data systematically and breaking it into units through coding, in order to make meaning out of the data. The findings revealed that the teaching of paragraph writing was re-conceptualized and applied from the product writing approach to the process writing approach. Moreover, it emerged from the findings that feedback and evaluation acted as a cornerstone in teaching paragraph writing to the students. This study will be an addition to repertoire of knowledge generated by previous researchers and will be beneficial for all contexts, students, teachers and stakeholders who are associated to English writing especially as a Second language (ESL) or a Foreign language (EFL) across the globe