Solmaz Sahebjam

University of Social Welfare and Rehabilitation Sciences, Tehrān, Ostan-e Tehran, Iran

Are you Solmaz Sahebjam?

Claim your profile

Publications (3)6.96 Total impact

  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: Hereditary hearing loss (HHL) is an extremely common disorder. About 70% of HHL is non-syndromic, with autosomal recessive forms accounting for ∼85% of the genetic load. Although very heterogeneous, the most common cause of HHL in many different world populations is mutations of GJB2, a gene that encodes the gap junction protein connexin 26 (Cx26). This study investigates the contribution of GJB2 to the autosomal recessive non-syndromic deafness (ARNSD) load in the Iranian population. One hundred sixty eight persons from 83 families were studied. GJB2-related deafness was diagnosed in 9 families (4, 35delG homozygotes; 3, 35delG compound heterozygotes; 1, W24X homozygote; 1, non-35delG compound heterozygote). The carrier frequency of the 35delG allele in this population was ∼1% (1/83). Because the relative frequency of Cx26 mutations is much less than in the other populations, it is possible that mutations in other genes play a major role in ARNSD in Iran. © 2002Wiley-Liss, Inc
    Human Mutation 05/2002; 19(5):572 - 572. DOI:10.1002/humu.9033 · 5.05 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: Beta-thalassemia is the most common hereditary disease in Iran. More than two million carriers of beta-thalassemia live in Iran. Since the Iranian population is a mixture of different ethnic groups, it is necessary to determine the frequency and distribution of mutations in the different parts of the country. For this purpose, we divided Iran in to eight different regions according to the geographic and ethnic distribution of the population. Over a 10-year period 1,217 beta-thalassemia chromosomes of 164 affected patients and 889 unrelated carriers were studied using the amplification refractory mutation system-polymerase chain reaction technique. We detected 81% beta-thalassemia mutations in the studied chromosomes. IVS-II-I (G --> A) was the predominant mutation found in our study (34%). Its relative frequency in the north was much higher than other regions, and it lessened toward the south, where the IVS-I-5 (G --> C) mutation was more common. IVS-I-5 (G --> C) (7.55%), codons 8/9 (+ G) (4.76%), and IVS-I-110 (G --> A) (4.76%) were the other most common mutations. The results presented here can be used as a basis of prenatal diagnosis of beta-thalassemia in different regions of Iran.
    Hemoglobin 08/2001; 25(3):285-96. · 0.96 Impact Factor
  • [Show abstract] [Hide abstract]
    ABSTRACT: beta -Thalassemia is the most common hereditary disease in Iran. More than two million carriers of beta -thalassemia live in Iran. Since the Iranian Population is a mixture of different ethnic groups, it is necessary to determine the frequency and distribution of mutations in the different parts of the country. For this purpose, we divided Iran in to eight different regions according to the geographic and ethnic distribution of the population. Over a 10-year period 1,217 beta -thalassemia chromosomes of 164 affected patients and 889 unrelated carriers were studied using the amplification refractory mutation system-polymerase chain reaction technique. We detected 81% beta -thalassemia mutations in the studied chromosomes. IVS-II-I (G --> A) was the predominant mutation found in our study (34%). Its relative frequency in the north was much higher than other regions, and it lessened toward the south, where the IVS-I-5 (G --> C) mutation was more common, IVS-I-5 (G --> C) (7.55%), codons 8/9 ( + G) (4.76%), and IVS-I-110 (G --> A) (4.76%) were the other most common mutations. The results presented here can be used as a basis of prenatal diagnosis of beta -thalassemia in different regions of Iran.
    Hemoglobin 01/2001; 25(3):285-296. DOI:10.1081/HEM-100105221 · 0.96 Impact Factor

Publication Stats

167 Citations
6.96 Total Impact Points

Top Journals

Institutions

  • 2002
    • University of Social Welfare and Rehabilitation Sciences
      • Genetics Research Center
      Tehrān, Ostan-e Tehran, Iran