survey of [CAG]n repeats causing juvenile Huntington disease in an Iranian family with 4 affected members

Huntingtons disease is caused by a trinucleotide repeat expansion [CAG]n in the gene coding for Huntingtin [Htt] and is one of the several polyglutamine diseases. Its physical symptoms occur in a large range of ages, with a mean occurrence in a persons late 40s and early 50s. Almost all references indicated that if the age of onset is below 20 years then it is known as juvenile HD. Our case was an Iranian family with 4 affected siblings [2 sisters and 2 brothers]. In addition to 4 affected children, they had 5 normal male progenies. There was no any other case in their family history. The onset age of the disease in our case family was 20 to 25 years. Their parents were unaffected and nonconsanguineous. Analysis of the pathogenic [CAG]n repeat region of the HD gene for the affected members have showed an expansion allele with 46, 50, 46, and 44 repeats in 4 affected siblings. Our results indicated that the age of 20 years maybe is not a stable limit point for all cases of juvenile HD, and perhaps onset ages are related with the CAG repeat sizes in such individuals

Inducible expression of human gamma interferon

The premature termination of high producer clones, which will be killed due to cell proliferation and proteins production antagonism, is one of the basic drawback in recombinant proteins technology. Furtheremore, it is supposed some toxic proteins like interferon which we intended to clone and express, inhibit host cells' proliferation. So, it is necessary to tightly control IFN-gamma production during growing and selecting of highly producing clones. In the present study, we constructed an expression vector, pMPGB43P2[6]K containing the cumate-regulatable expression cassette to high production of human IFN-gamma in Chinese Hamster Ovary- Cumate Transactivator [CHO-CTA]. The clones were selected in the cumate and without cumate treated medium. Our results showed induced IFN-lamda expression level was about 5 of magnitude higher than the constitive transgenic system. Application of cumate-regulatable expression cassette, which can be switch off and on by cumate, is useful to production of high producer clones and express toxic proteins in animal cells

[Pedigree patterns of families having at least one member with sensorineural deafness in Hamadan]

Sensorineural hearing loss is a relatively common disorder that causes different degrees of reduction in voice perception and speech recognition. Its incidence is 1 in a 1000 neonate of which 50% is the result of genetic factors. About 80% of the hereditary deafness cases are non-syndromic and are inherited in an autosomal recessive mode. Recent studies show that mutation in the connexin 26 gene [GJB2] on chromosome 13 is associated with autosomal recessive non-syndromic hearing loss [ARNSHL] in many populations. So study of pedigree patterns of families having at least one member affected with hearing loss will hand a valuable information about its etiology and also its mode of inheritance. The results will make us able to help such families in genetic counseling procedure and in determining the high-risk cases. Also it will be a good point for starting molecular study to identify the related mutant gene/s. This descriptive and analytical study was performed on all families [N=30] that had at least one member with ARNSHL studying in Baghcheban Center, Hamadan, Iran. Data was obtained from files of the affected cases, then the suitable questionnaires were filled after face to face interviews with their parents. The cases were indicated as deaf if they had hearing loss more than 40db. Then based on the results of the interviews, their pedigrees were drawn and based on the standard criteria, the pattern of inheritance was determined. By employing the descriptive statistics, the results were evaluated and analyzed. Finally the results were compared with others and the role of consanguinity and genetic isolation in occurrence of hearing loss was studied. The results showed that pedigree patterns in all families interviewed were autosomal recessive. 90% of parents had consanguineous marriages and half of the families were related to the isolate groups