Figure 1.

Homozygosity mapping. The pedigree of the consanguineous Pakistani family is shown. Black and white symbols denote affected and unaffected individuals, respectively. D5S628, D5S634, and D5S2022 dinucleotide repeat markers were amplified by PCR, and resultant fragments were electrophoresed on a 5% PAGE gel on an ABI 377 automated sequencer; analysis was performed using Genescan software (Applied Biosystems). The complex single polymorphic region in intron 9 of GHR was sequenced using the ABI Prism Big Dye Sequencing kit and an ABI 377 automated DNA sequencer (Applied Biosystems), in accordance with the manufacturer’s instructions. Genotypes of this region are indicated by Roman numerals, as defined by Amselem et al. (1989).