Body structural and cellular aging of women with low socioeconomic status in Hungary: A pilot study.

OBJECTIVES: The health status of an individual is determined not only by their genetic background but also by their physical environment, social environment and access and use of the health care system. The Roma are one of the largest ethnic minority groups in Hungary. The majority of the Roma population live in poor conditions in segregated settlements in Hungary, with most experiencing higher exposure to environmental health hazards. The main aim of this study was to examine the biological health and aging status of Roma women living in low socioeconomic conditions in Hungary. METHODS: Low SES Roma (n: 20) and high SES non-Roma women (n: 30) aged between 35 and 65 years were enrolled to the present analysis. Body mass components were estimated by body impedance analysis, bone structure was estimated by quantitative ultrasound technique. Cellular aging was assessed by X chromosome loss estimation. Data on health status, lifestyle and socioeconomic factors were collected by questionnaires. RESULTS: The results revealed that low SES women are prone to be more obese, have a higher amount of abdominal body fat, and have worse bone structure than the national reference values. A positive relationship was found between aging and the rate of X chromosome loss was detected only in women with low SES. Waist to hip ratio, existence of cardiovascular diseases and the number of gravidities were predictors of the rate of X chromosome loss in women. CONCLUSIONS: The results suggested that age-adjusted rate of X chromosome loss could be related to the socioeconomic status.

Analysis of GJB2 mutations and the clinical manifestation in a large Hungarian cohort.

PURPOSE: Pathogenic variants of the gap junction beta 2 (GJB2) gene are responsible for about 50% of hereditary non-syndromic sensorineural hearing loss (NSHL). In this study, we report mutation frequency and phenotype comparison of different GJB2 gene alterations in Hungarian NSHL patients. METHODS: The total coding region of the GJB2 gene was analyzed with Sanger or NGS sequencing for 239 patients with NSHL and 160 controls. RESULTS: Homozygous and compound heterozygous GJB2 mutations were associated with early onset serious clinical phenotype in 28 patients. In 24 patients, two deletion or nonsense mutations were detected in individuals with mainly prelingual NSHL. In compound heterozygous cases, a combination of deletion and missense mutations associated with milder postlingual NSHL. A further 25 cases harbored single heterozygous GJB2 mutations mainly associated with later onset, milder clinical phenotype. The most common mutation was the c.35delG deletion, with 12.6% allele frequency. The hearing loss was more severe in the prelingual groups. CONCLUSION: The mutation frequency of GJB2 in the investigated cohort is lower than in other European cohorts. The most serious cases were associated with homozygous and compound heterozygous mutations. In our cohort the hearing impairment and age of onset was not altered between in cases with only one heterozygous GJB2 mutation and wild type genotype, which may exclude the possibility of autosomal dominant inheritance. In early onset, severe to profound hearing loss cases, if the GJB2 analysis results in only one heterozygous alteration further next generation sequencing is highly recommended.

[Mixed gonadal dysgenesis associated with an isodicentric Y chromosome]. / Izodicentrikus Y-kromoszómához társuló kevert gonáddiszgenezis.

Authors report a case of mixed gonadal dysgenesis with a karyotype containing an isodicentric Y chromosome in mosaic form, which was diagnosed in an infant. They emphasize the necessity of the special investigations of newborn with perineoscrotal hypospadia and bilateral or unilateral maldescent testes immediately after birth. The result of accurate evaluation provides correct sex assignment and the prevention of the neoplastic degeneration of a dysgenetic gonad.

Segregation of chromosomes in spermatozoa of four Hungarian translocation carriers.

OBJECTIVE: To determine the segregation pattern of the translocated chromosomes in spermatozoa of human males with translocations. DESIGN: Retrospective case-control study. SETTING: Hospital-based genetic laboratory for reproductive biology. PATIENT(S): A carrier with Y-autosome reciprocal translocation, two with autosome-autosome reciprocal translocations, and one with Robertsonian translocation. INTERVENTION(S): Blood sample and sperm sample collection from each translocation carrier. MAIN OUTCOME MEASURE(S): Fluorescence in situ hybridization on lymphocyte slides to characterize each translocation case. Fluorescence in situ hybridization with specific DNA probes for each of the sperm samples to characterize the chromosomes involved in the rearrangement and to evaluate the possible interchromosomal effect for chromosomes 18, X, and Y. RESULT(S): Each translocation carrier showed a specific mode of segregation pattern of the translocated chromosomes, confirming the dependence on chromosomes involved in the translocation. The highest frequency from alternate segregation was with the carrier of Robertsonian translocation (90.9%), and the lowest was with the carrier of Y-autosome translocation (29.7%). No evidence of an interchromosomal effect for chromosomes 18, X, and Y were detected. CONCLUSION(S): Depending on the rate of the genetically normal and abnormal segregation modes, we can evaluate the chance of having a healthy proband. These results ensure more accurate genetic counseling for patients in assisted reproduction centers.