ABSTRACT
Sickle cell anemia in Iran is accompanied by a high level of HbF and mild clinical presentation. Here we report haplotypes of the beta gene cluster found in 81 randomly selected sickle cell patients, including 47 sickle cell anemia (SS), 17 sickle cell trait (AS), and 17 sickle/thalassemia (S/thal) from southwest Iran. We found all five common typical haplotypes as well as five atypical haplotypes in our patients. Except for four patients with homozygous Benin haplotype, none of the other African typical haplotypes were found in a homozygous state. Arab-Indian was found to be the most prevalent haplotype in the study population. This haplotype accounted for 51.1% as the homozygous form in SS patients, where 69.1% of chromosomes in these patients had the Arab-Indian haplotype. Bantu A2 was the second most prevalent haplotype among all patients. The mean %HbF in SS patients was 27.83 and in the homozygous Arab-Indian haplotype it was still higher (30.40%), while in AS patients the %HbF was only 1.20. The high %Ggamma chain (71.81) in the Arab-Indian homozygous haplotype was concomitant with the presence of an Xmn I site in both chromosomes. The presence of the Arab-Indian haplotype as the predominant haplotype might be suggestive of a gene flow to/from Saudi Arabia or India. More haplotype investigations of a normal population can clarify the high incidence of Bantu A2 haplotype in our population.
Subject(s)
Anemia, Sickle Cell/genetics , Globins/genetics , Haplotypes/genetics , Adolescent , Adult , Child , Child, Preschool , Female , Hematologic Tests , Hemoglobin, Sickle/genetics , Humans , Iran/ethnology , Male , Middle Aged , Multigene Family/genetics , Polymorphism, Restriction Fragment Length , Sickle Cell Trait/genetics , Thalassemia/geneticsABSTRACT
Seventeen unrelated beta-thalassemia patients or carriers from Southwestern Iran were examined for the beta-globin gene mutations by polymerase chain reaction amplification of the beta-globin gene and direct genomic sequencing, or by the method of allele-specific oligonucleotide hybridization. Their clinical and hematological characteristics were also recorded. Of 26 potential thalassemia-causing chromosomes examined, 10 different mutations were found. The IVS-II-1 (G-->A) mutation was the most frequent (31%) followed by the IVS-I-6 (T-->C) mutation (15%). Eight mutations were initially described in Mediterranean populations and two were of Kurdish origin. Four of these mutations, both initially described in the Mediterranean region, are reported here for the first time in Iranians. The unexpectedly high number of different mutations that account for beta-thalassemia in this region of Iran suggest migration of chromosomes from distant places and genetic admixture.
Subject(s)
Globins/genetics , beta-Thalassemia/genetics , Base Sequence , Carrier State , Humans , Iran , Molecular Sequence Data , MutationABSTRACT
The effect of growth and development on the DNA and ganglioside-NANA of the rabbit forebrain, cerebellum and brainstem was studied. Animals were killed at 1 day of age and at intervals up to 180 days. The growth rate of each part of the brain fell during the first 30 days, but showed a spurt at about 40 days. The absolute amount of DNA reached its mature value by about 40 days. In the forebrain, the deposition of ganglioside-NANA rose sharply to a peak value at 50 days, falling to 120 days and rising again to 180 days, whereas in the cerebellum and brainstem the amount rose almost steadily to a mature value at 90 and 120 days, respectively. In the forebrain, the proportion of GD1a and GM1 showed a reciprocal rise and fall, respectively, during the first 10 days after birth, subsequently falling and rising to near mature values by 50 days. GD1a was the major ganglioside in the mature forebrain, whereas GT1 and GD1b were the major gangliosides in the mature cerebellum and in the mature brainstem, respectively.