دروازہ
دہلیز پہ بیٹھی ایک بڑھیا چہرے کی جھریاں سہلا رہی تھی
اس کی دھندلائی آنکھیں بیتے دنوں پہ نوحہ کناں تھیں
جیسے یادوں کی آگ آنسوئوں سے بجھا رہی ہو
نحیف ہاتھوں میں وقت کا تحفہ تھامے
ڈھلکتے آنچل سے بے خبر نجانے کن دنیائوں میں گم تھی
اپنی صدا سے دور کئی صدائوں میں گم
دھندلی آنکھوں سے ماضی میں جھانک رہی تھی
وہ دل کش چہرے اور حسین منظر
کچی دیواریںاور کھلے در
Adultery, immorality and sexual misconduct is a major crime, which has been condemned in all previous legislations sent by Allah, ancient nations, the bedouin tribes and in Islamic law. The religion of Islam not only forbids adultery, rather it prohibits going even near the causes leading to it. From medicinal point of view, adultery may cause AIDS, herpes etc. The word “zina” means to have sexual relationship without a marriage contract. Its synonyms in Arabic are: al bigha, al safah, al anat, and al fahisha. Islam imposes punishment on unmarried people committing adultery. According to Imam al shaf’i, the punishment is one hundred lashes for both man and the woman, and exile for one year. Whereas Imam Abu Hanifa only imposes one hundred lashes. For a married adulterer, the punishment is hundred lashes and death by stoning. Rest of the jurists unanimously agree that they will only be stoned to death. Majority of the scholars agree that if a concubine commits adultery, she will be giving fifty lashes. According to Saeed bin Musayyib, she will be beaten in order to teach her decent manners. In order to impose the punishment of zina on someone, it will be ensured that the adulterer is an adult, the woman should not be from a country who is at war with the Muslims, she is alive and the adultery has taken place in a Muslim country. Among the the repulsive results of adultery are spread of sexually transmitted diseases, increase in number of illegitimate children, lesser percentage of legitimate children and increase in crimes. One of the factors pointing towards the prohibition of zina is that it has been forbidden since early Islam and a severe punishment has been imposed on it. Of the vices of zina is the mixing up of lineages. Our society today is flooded with immoral behaviour, which is endangering our “iman” and “yaqeen” and is driving our society towards destruction. This wave of immorality has reached the elite of the society and it is obligatory upon every individual to put his share in stopping it.
Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous group of non-syndromic cornification disorders characterized primarily by generalized hyperkeratotic epidermal scales with or without erythroderma. So far, pathogenic variants in fourteen genes have been associated with ARCI most of which perturb lipid metabolism and localization during cornification, thereby disrupting the lipid envelope and thus barrier function. Research is in progress to reduce or treat the disease manifestations in affected individuals by enzyme replacement therapy and gene therapy. Moreover, gene expression studies and histopathological studies have been performed to discover more effective drug targets. However, a more precise genotype to phenotype correlation and a greater understanding of the pathophysiology would aid in developing more specific therapies. Therefore, the necessity is to elucidate the link between a defective gene and the resulting difference in expression of proteins in epidermis. In the current study whole exome sequencing (WES), Sanger sequencing and mass spectrometry were used to investigate four consanguineous Pakistani families (A, B, C, and D) affected with ARCI. WES identified a frameshift mutation c.364dupA (p.T122IfsX3) in SDR9C7 in family A, a nonsense mutation c.762C>G (p.Tyr254*) in PNPLA1 in family B, a missense mutation c.944G>A (p.R315H) in TGM1 in family C, and a missense mutation c.424 (p.R142C) in TGM1 in family D. Mass spectrometry of purified proteins isolated from epidermal corneocytes samples of the affected individuals confirmed the deleterious effects of the identified mutations. Combinatorial protein analysis of the three groups (PNPLA1, SDR9C7, and TGM1) identified common 20 proteins with altered expression in all the disease groups indicating their central role in ARCI pathology. Furthermore, a proteomic spectrum specific for each type of ARCI was also acquired. In conclusion, four families affected with ARCI were identified with mutations in SDR9C7, PNPLA1, and TGM1 along with the proteomic profiles that could aid in the genetic counseling and prenatal diagnosis of the families as well as devising improved diagnostic and therapeutic approaches for ARCI.