was Ampli-Taq DNA polymer-ase. Another problem may be attributable to the production of uneven peak-height patterns, which are caused by differences in the efficiency of dideoxy termination at different bases and are affected by sequence context as well. Zakeri et al. (5) reported that a heterozygous C peak was much smaller in size than a heterozygous G peak. This is in agreement with our resul...

Scott et al . (Reports, 27 November 2020, p. 1086) bring much-needed attention to species conservation by demonstrating heterozygote superiority among translocated tortoises. However, we believe that their recommended heterozygosity decision rule risks taking genomics backward. We argue advice could misguide management aimed at establishing viable populations, and it can be improved also assess...

AIMS To characterise the disease in patients with mutations in RPE65. METHODS Individuals from two families were studied clinically. RESULTS 13 and 20 year old compound heterozygote individuals from one family with R234X and 1121delA mutations showed nystagmus, macular dystrophy and low contrasted spots in the fundus. Some heterozygotes had macular drusen. A 40 year old compound heterozygot...

3H-DHT binding was examined in cultured skin fibroblasts from a patient with complete testicular feminisation (CTF), from his heterozygote mother, and his clinically normal sister, who menstruated normally. Binding parameters were: Bmax less than 1 fmol/mg protein and KD unmeasurable in CTF; Bmax = 24 fmol/mg protein and KD = 3.63 X 10(-9) mol/l in the mother; and Bmax = 46 fmol/mg protein and...

A family is described in which Friedreich's ataxia occurred in two generations. It is proposed that this resulted from a homozygote-heterozygote mating. The heterozygote frequency for the Friedreich's ataxia gene is in the order of 1 in 110, so the likelihood of the disease developing in an individual child of a patient is 1 in 220. This risk is probably higher than that often assumed when coun...