Cystinuria is characterized by the impaired reabsorption of cystine in the proximal renal tubules and the gastrointestinal epithelium. Recurrent nephrolithiasis is the main consequence. In total, 12% ...of adults and 6 8% of children suffering from kidney stones have cystinuria. Gucev et al report a rare digenic inheritance in a patient with cystinuria type AA (B) with mild clinical characteristics (single urinary stone) and with a family amino acid excretion of a mixed heterozygous type.
Objective. The aim of this study was to evaluate the specificity and sensitivity of the real-time quantitative PCR method for fetal gender determination in early pregnancy.
Methods. Blood samples ...were collected from 46 pregnant women prior to amniocentesis. DNA was extracted from maternal plasma using a QIAmp DNA Blood Mini Kit. DNA samples were subjected to real-time quantitative PCR amplification of SRY (as a fetus-specific marker) and β-globin (as a marker for total plasma DNA) genes.
Results. The β-globin gene sequence was detected in all samples. The SRY gene was detected in 25 of 28 plasma samples from women with male fetuses and in none of the 18 samples from women with female fetuses (sensitivity 89.2% and specificity 100%). The fetal gender was correctly determined in 43 (93.5%) of 46 maternal plasma samples. The concentration of the β-globin gene ranged from 161 to 25 568 genome-equivalents (GE) mL (median 1051.1), while the concentration of the SRY gene ranged from 5 to 166 GE mL (median 27.4). The percentage of free fetal DNA ranged from 0.1% to 46.1% (median 2.0%).
Conclusion. Amplification of fetal DNA from maternal plasma by real-time quantitative PCR is a promising method for fetal sex determination in early pregnancy. However, further studies are necessary before this procedure can be included into a clinical routine.
AZF deletions in infertile men from the Republic of Macedonia Plaseski, Toso; Novevski, Predrag; Kocevska, Borka ...
Prilozi - Makedonska akademija na naukite i umetnostite. Oddelenie za biološki i medicinski nauki
27, Številka:
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Journal Article
Y chromosome deletions in the three azoospermia factor (AZF) regions constitute the most common genetic cause of spermatogenic failure. The aim of this study was to estimate the length and boundaries ...of the AZF deletions and to correlate the AZF deletions with the sperm concentrations, testicular histology, Y haplogroups and the ethnic origin of the men with deletions. PCR analysis of STS loci in the three AZF regions was used to characterize the deletions. Y haplogroup was predicted from a set of 17 Y short tandem repeats (STR) marker values. A total of nine men out of 218 infertile/subfertile men showed the presence of Y microdeletions. In eight patients the results were consistent with the presence of AZFc deletions, while in one patient a larger deletion involving both AZFb and AZFc regions was detected. In two patients, the deletion, initially diagnosed as AZFc, involved part of the distal part of the AZFb region and in one of them the deletion also extended into the region distal to the AZFc. The 3.5 Mb AZFc deletion, due to homologous recombination between b2 and b4 amplicons, was detected in six men (66.7% of all Y deletions), thus being the most common type of AZF deletion among infertile men from the Republic of Macedonia. Patients with the 3.5 Mb AZFc deletion had azoospermia or severe oligozoospermia and variable histological results Sertoly cell only syndrome (SCOS), maturity arrest (MA) and hypospermatogenesis (HSG). They were of different ethnic origin (Macedonian, Albanian and Romany) and belonged to different Y haplogroups (I1b, J2, E3b and G).
