Glucose-6-phosphate dehydrogenase mutations and haplotypes in Mexican Mestizos.

In a screening for glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in 1985 unrelated male subjects from the general population (Groups A and B) belonging to four states of the Pacific coast, 21 G-6-PD-deficient subjects were detected. Screening for mutations at the G-6-PD gene by PCR-restriction enzyme in these 21 G-6-PD-deficient subjects as well as in 14 G-6-PD-deficient patients with hemolytic anemia belonging to several states of Mexico showed two common G-6-PD variants: G-6-PD A-(202A/376G) (19 cases) and G-6-PD A-(376G/968C) (9 cases). In 7 individuals the mutations responsible for the enzyme deficiency remain to be determined. Furthermore, four silent polymorphic sites at the G-6-PD gene (PvuII, PstI, 1311, and NlaIII) were investigated in the 28 individuals with G-6-PD A- variants and in 137 G-6-PD normal subjects. As expected, only 10 different haplotypes were observed. To date, in our project aiming to determine the molecular basis of G-6-PD deficiency in Mexico, 60 unrelated G-6-PD-deficient Mexican males-25 in previous studies and 35 in the present work-have been studied. More than 75% of these individuals are from states of the Pacific coast (Sinaloa, Nayarit, Jalisco, Michoacán, Guerrero, Oaxaca, and Chiapas). The results show that although G-6-PD deficiency is heterogeneous at the DNA level in Mexico, only three polymorphic variants have been observed: G-6-PD A-(202A/376G) (36 cases), G-6-PD A-(376G/968C) (13 cases), and G-6-PD Seattle(844C) (2 cases). G-6-PD A- variants are relatively distributed homogeneously and both variants explain 82% of the overall prevalence of G-6-PD deficiency. The variant G-6-PD A-(202A/376G) represents 73% of the G-6-PD A- alleles. Our data also show that the variant G-6-PD A-(376G/968C)-which has been observed in Mexico in the context of two different haplotypes-is more common than previously supposed. The three polymorphic variants that we observed in Mexico are on the same haplotypes as found in subjects from Africa, the Canary Islands, and Spain.

Adjusting heart rate during sleep using activity variance.

UNLABELLED: In order to mimic the natural decrease in heart rate that occurs during sleep, an algorithm was devised to decrease the base rate to a programmable sleep rate. The algorithm was developed using activity and sinus rate data obtained from 18 normal subjects ranging in age from 22-80 years. The data were recorded in the event record of a "taped-on" pacemaker. The surface ECG signal was used to inhibit a pacer programmed to VVI at 45 ppm. The ECG documented the sinus rate while the accelerometer-based activity signals were recorded in an event record. An algorithm was used to estimate the smoothed acceleration variance every 26 seconds. The activity variance was stored in a histogram. RESULTS: The lower 7/24ths of the histogram entries were primarily attributable to sleep. If the activity variance was entered into the lower 7/24ths of the histogram and the accelerometer reading was below rate responsive threshold, the base rate was switched to sleep rate. Using least mean squares to estimate optimal slope, base rate, and sleep rate, the root mean square error between activity derived heart rate and sinus rate was 12 beats/min. CONCLUSION: This study supports using an estimate of activity variance to automatically decrease pacing rate below programmed base rate. This decrease may be actuated during an afternoon nap or nighttime sleep.