Prevalence of the "Pro12Ala" mutation of ppar-gamma2 gene in an Arabic Iraqi population

Pro12Ala is a common functional mutation of PPAR-gamma2 gene whose frequency varies widely worldwide. In Iraq, there are no studies of the frequency of Pro12Ala. The aim of this study is to find out the frequency of Pro12Ala [rs1801282] in an Iraqi population and to compare it with those of other populations. Pro12Ala was genotyped in 95 healthy unrelated Arabic native Iraqi adult subjects using PCR- Restriction Fragment Length Polymorphism [PCR-RFLP]. Its frequency was compared to those of other populations. Genotype frequencies were within Hardey-Weinberg Equilibrium [HWE]. Allelic frequencies were 90.53% for the C [Pro] allele and 9.47% for the G [Ala12] allele. The homozygous wild type genotype [Pro12Pro] frequency was 81.05%. The heterozygous mutant genotype [Pro12Ala] was evident in 18.95% of subjects with no cases of [Ala12Ala]. Allelic and genotypic frequencies were statistically different from those of Ukrainian [p=0.007 and 0.017], Chinese [p=0.041 and 0.034], and African Americans [p=0.000 and 0.000]. Iraqis have relatively high prevalence of Pro12Ala mutation which differs from several populations confirming the need for understanding the genetic background of each population

Absence of mutations in GJB2 (Connexin-26) gene in an ethnic group of southwest Iran.

BACKGROUND: The common GJB2 gene mutation (35delG) has been previously reported from Iranian patients that were affected with nonsyndromic autosomal recessive deafness. We, therefore, for the first time, investigated the prevalence and frequency of the GJB2 gene mutation in the Iranian deaf population with Arabian origins. MATERIALS AND METHODs: We amplified and sequenced the entire coding sequence of the GJB2 gene from 61 deaf patients and 26 control subjects. RESULT: None of the analyzed samples revealed deafness-associated mutation. CONCLUSION: This finding differs from several reports from Iran as we have focused on the GJB2 gene that possesses various mutations as the cause of congenital recessive deafness.

Relationship between alpha-1 antitrypsin deficient genotypes S and Z and lung cancer in Jordanian lung cancer patients

Alpha-1 antitrypsin [alpha1-AT] is a secretory glycoprotein produced mainly in the liver and monocytes. It is the most abundant serine protease inhibitor in human plasma. It predominantly inhibits neutrophil elastase thus, it prevents the breakdown of lung tissue. The deficiency of alpha1-AT is an inherited disorder characterized by reduced serum level of alpha1-AT. Protease inhibitors Z [PiZ] and protease inhibitors S [PiS] are the most common deficient genotypes of alpha1-AT. The aim of this study is to test the relationship between alpha1-AT deficient genotypes S and Z and lung cancer in Jordanian lung cancer patients. We obtained the samples used in this study from 100 paraffin embedded tissue blocks of the lung cancer patients from Prince Iman Research Center and Laboratory Sciences at King Hussein Medical Center, Amman, Jordan. Analyses of the Z and S genotypes of alpha1-AT were performed by polymerase chain reaction and restriction fragment length polymorphism techniques at Jordan University of Science and Technology during 2003 and 2004. We demonstrated that all lung cancer patients were of M genotype, and no Z or S genotypes were detected. There is no relationship between alpha1-AT deficient genotypes S and Z and lung cancer in patients involved in this study

Profile of major congenital malformations in neonates in Al-Jahra region of Kuwait

We investigated major congenital abnormalities in babies born in Al Jahra Hospital, Kuwait from January 2000 to December 2001. Of 7739 live and still births born over this period, 97 babies had major congenital malformations [12.5/1000 births]: 49 [50.6%] babies had multiple system malformations, while 48 [49.4%] had single system anomalies. Of the 49 babies with multiple malformations, 21 [42.8%] had recognized syndromes, most of which were autosomal recessive and 17 had chromosomal aberrations. Isolated systems anomalies included central nervous system [12 cases], cardiovascular system [9 cases], skeletal system [7 cases] and gastrointestinal system [6 cases]. Of the parents, 68% were consanguineous. Genetic factors were implicated in 79% of cases. Genetic services need to be provided as an effective means for the prevention of these disorders

Familial mediterranean fever mutation frequencies and carrier rates among a mixed Arabic population

Familial Mediterranean Fever [FMF] is an autoinflammatory periodic disorder characterized by febrile and painful attacks due to inflammation involving the serosal membranes. The gene implicated in this disorder, MEFV, has been cloned and mutations in its coding regions have been identified. We aimed at identifying the frequency of MEFV, mutations and carrier frequency in a mixed Arabic population. We identified 29 prob and s from 29 unrelated sibships segregating the disorder and representing the affected individual cohort. We screened 200 anonymous deoxyribonucleic acid [DNA] samples, representing a healthy adult cohort, for the mutations found to be common in the affected individual cohort. We also, screened anonymous DNA samples from 4 Arabic countries, namely, Egypt [231], Syria [225], Iraq [176] and the Kingdom of -Saudi Arabia [107] thus enlarging our healthy adult cohort. The study was carried out between 1999 and 2002 at Jordan University of Science and Technology, Irbid and the University of Jordan, Amman, Jordan. Out of the 58 alleles of the 29 prob and s, only 31 mutations were identified and M694V and V726A are the most common. The mutation E148Q was the most common among the healthy adult cohort, but was not present in affected individuals. The collective mutant allele frequency "q" was 0.101. The expected carrier rate was 18.1% [one in 5.5] while the observed carrier rate was 18.4% [one in 5.4]. E148Q has reduced penetrance and thus, a proportion of the individuals genetically affected with FMF remain asymptomatic. M694I and M680I are more prevalent in the affected individuals cohort, which points to their higher penetrance. The overall carrier rate is one in 5, but the selective heterozygote advantage could not be demonstrated in this study due to the relatively small sample size