A mapping population of recombinant inbred lines (RILs) derived from the cross between Co39 (lowland, Indica rice cultivar) and Moroberekan (upland, Japonica) was used, in two experiments to map QTLs associated with salt tolerance, particularly, ion accumulation under salinity stress by composite interval mapping (CIM). In QTL mapping study-I, plants were transplanted in compost filled pots and exposed to non saline and saline treatments (100 mol m -3 NaCl + 5 mol m -3 CaCl 2 ) in a flood bench system and data were recorded for various physiological and morphological parameters at different exposure times to salt stress. There were three replications in mapping study-I. The plants were grown only at 100 mol m -3 NaCl + 5 mol m -3 CaCl 2 salt stress in mapping study-II, with three replications. QTL mapping study-I used 32 RILs, whereas, in study-II a total of 120 RILs were evaluated for phenotypic response. The integrated genetic map of rice chromosome-1, consisting of 45 molecular markers had a distance of 201.2 cM with an average interval of 4.57 cM between markers, saturating a region that has previously been identified as a hot-spot for ion accumulation QTLs. In mapping study-II, Na + , K + concentration and K + /Na + ratio in the sap of different parts of the plant were recorded at 7 and 21 days of salt stress. A total of 38 QTLs for ion accumulation were detected in the 80 to 101 cM region of the genetic map of chromosome-1. We identified three separate regions that were active in controlling ion concentration at 21 days of salt stress, suggesting that a minimum of three different genes were acting to regulate leaf sap ion concentrations. QTLs for various physiological and morphological traits associated with salt tolerance were also detected on other chromosomes of rice. In mapping study-I, 6QTLs for Na + in expanded leaf were detected on chrom.1 (2QTLs), 2 (1QTL), 3 (1QTL) and 9 (2QTLs), whereas, 4QTLs were found on chrom.1 at 21 days salt stress in mapping study-II. Similarly, 6QTLs for K + in expanded leaf were detected on chrom.1 (1QTL), 2 (1QTL), 6 (1QTL), 7 (1QTL) and 9 (2QTLs), whereas, no QTL was identified in mapping study-II at 21 days salt stress. Regarding, K + /Na + ratio of expanded leaf 5QTLs were detected on chrom.1 (4QTLs) and 12 (1QTLs) in mapping study-I, whereas, 4QTLs were identified on chrom.1 at 21 days salt stress in mapping study-II. QTLs for these traits were also detected in other tissue types in mapping study-II. The QTLs for Na + accumulation were detected at different regions under salt stress and non stress conditions suggesting that same genes are not involved in the control of ions under salt stress and non stress conditions. Moroberekan alleles at most of the loci increase Na + and decrease K + conc. in the leaf sap under salt stress. The markers RM10710, RM8094, K061, RM3412 and RM493 are important for salt tolerance on chromosome-1 because of the presence of consistent QTLs for K + and Na + accumulation in this region. The relationship is also discussed between these QTLs and others such as Saltol, SalT, SKC-1 etc. reported by different authors. QTL for days to heading were also found under non saline conditions.
رکھیے سجناں نال رسائی چنگی ہوندی نہیں لڑائی ساڈے نال ناں دکھیں ہوویں اساں تاں پنڈ دکھاں دی چائی پھر سجن نوں گھر بلاویں پہلے دل دی کر صفائی لوکاں دے نال ہسے کھیڈے سانوں ڈٹھا نظر چرائی عشق دی منزل اوکھی گھاٹی جس وی پائی مر کے پائی رکھنا بھید مرد دا جوہر موہوں نکلی گل پرائی پتر اپنا سوہنا لگے چنگی لگے رن پرائی پھلاں وانگوں جیوڑا ہویا دل وچ یاد سجن دی آئی
Reproduction is an important aspect of a women's life, unfortunately in Pakistan fertility rates are quite high in comparison to other developing countries as well as in comparison to the other South Asian countries. Different studies have suggested that women empowerment can help reduce fertility rates. The present study has attempted to analyze the role of women empowerment along with other socioeconomic indicators on three different dimensions of the fertility behavior i.e. Number of children born (current fertility status), ideal number of children and birth intervals (future fertility status. Data of Demographic and Health Survey (PDHS) 2012-13 has been used. The analysis consists of two levels, at level one a descriptive analysis is carried out. As three different aspects of fertility are the count data. Therefore at the next stage models will be estimated by using poison regression technique and Incidence Rate Ratios (IRR) are reported. It has been found that women’s being empowered in financial matters, seeking health care and in household decision making are helpful in reducing fertility. Furthermore, participation in job by women, living in urban areas, having secondary or higher education, access to awareness created by the media, married at higher age are also significant factors in reducing fertility. However, women facing incidence of miscarriage or death of a child tends to increase the fertility. Study had found that wealth of the household, education of husband and having sons have very limited role on the fertility behavior.
Intellectually disability is a genetically heterogeneous disorder that results due to impairment in development of nervous system. Intellectual disability is characterized by an IQ level below 70 and limitation in adaptive behaviors. Prevalence of intellectual disability is estimated 2-3% worldwide. In Pakistani population, prevalence of intellectual disability is higher than the average. Numerous factors contribute to the elevated prevalence. These include poor nutrition, deprived social-economic conditions, birth defects, and consanguinity. Genetic factors contributing to intellectual disability have not been studied comprehensively in Pakistani population. The present project was conducted at the Genetic Diseases Laboratory, Center of Excellence in Molecular Biology (CEMB), Lahore. The aim of study was to uncover genetic determinants of intellectual disability in local population. Thirty two families with multiple intellectually disabled patients are enrolled from various cities. Genetic analysis of these families to determine causative genetic variations, homozygosity mapping and next generation sequencing was performed. The results were further verified by in-silico tools and Sanger sequencing. Two families designated PKMR198 and PKMR 216 showed linkage to MRT23 and MRT9 respectively. Two families, PKMR 205 and PKMR 213, showed novel linkage at chromosome 13 and chromosome 1 respectively. Exome sequencing was utilized to find pathogenic DNA changes that have potential to cause intellectual disability. In three families recurrent mutations were found in reported genes for intellectual ability. PKMR29 showed segregation of recurrent mutation c.881A>G in POMT2. PKMR115 presented mutation c.57G>A in SRD5A3. In PKMR184, recurrent mutation c.5769delT was present in SPG11. Novel pathogenic variations were found in ten genes known to be involved in intellectual disability. These pathogenic variations were homozygous in affected individuals. In five families PKMR85, PKMR99, PKMR119, PKMR193 and PKMR133 novel pathogenic missense variations in MED23_c.506A>G, SYNE1_c.939G>C, PGAP1_c.2276A>G, ARL13B_c.599G>A and DOCK8_c.295G>A were segregated with intellectual disability respectively. In another three families PKMR79, PKMR212 and PKMR224 novel disease causing frameshifts variants AP4M1_c.1287delG, ZFYVE26_c.1630_1631delTC and MKKS_c.775delA showed segregation with intellectual disability respectively. One family PKMR102 segregates stop gain variation ASPM_c.3977G>A with microcephaly. A canonical splice site variation AP4S1_c.139-2A>G at splice acceptor site was found segregating with disease phenotype in family PKMR216. In addition, the results revealed pathogenic genetic variations in nine novel candidate genes. In four families PKMR153 PKMR174, PKMR195 and PKMR213 missense damaging variations GPAA1_c.527G>C, MEGF9_c.686G>A, WFDC1_c.634G>A and TMEM222_c.214G>A were segregated with the neurologic impairment. In four families PKMR64, PKMR200, PKMR206 and PKMR215 novel truncating disease causing variations CAPN12_c.658_659delAA, UBE2J2_c.77_78delAA, CCDC82_c.373delG and PUS7_c.89_90delCA showed segregation respectively. In PKMR72 a silent and splice site variation of MDGA2 (c.2232A>G) is segregating. All known and novel pathogenic variations were homozygous in intellectually disable patients and segregate with autosomal recessive inheritance. These findings further expand the existing repertoire of genes involved in ARID.