Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Tandem-repetitive DNA hybridization probes based on a putative human recombination signal detect multiple polymorphic minisatellite fragments in human DNA. The genetic complexity of the resulting individual-specific DNA "fingerprints" was investigated by studying a large sibship affected by neurofibromatosis and a more extensive pedigree segregating for two different hemoglobinopathies. The segregation of up to 41 different heterozygous DNA fragments from each parent could be analyzed in a single sibship, using two different repeat probes. Most of these variable DNA fragments could not be paired as alleles, to an extent which suggests that the DNA fingerprints are together derived from approximately 60 heterozygous loci (approximately 120 variable fragments), only a proportion of which can be scored in a given individual. Two or three of the DNA fragments detected by one probe showed tight linkage and may be derived from long minisatellite(s) that are cleaved to produce more than one polymorphic DNA fragment. Excluding allelic and linked DNA fragments, almost all remaining scorable fragments segregated independently, allowing up to 34 unlinked loci to be examined simultaneously. These loci are scattered over most or all of the human autosomes. Minisatellite probes are therefore suitable for rapid marker generation and can be applied to linkage analysis in human pedigrees.
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PMID:DNA "fingerprints" and segregation analysis of multiple markers in human pedigrees. 301 28

Birth defects increase the risk of speech, language, and hearing disorders in childhood. The prevalence of particular congenital anomalies varies from one racial and ethnic group to another. Some conditions such as the hemoglobinopathies, polydactyly, and external ear malformations are more common among black people. Other birth defects are rarer among black children, notably cleft lip and palate, neural tube defects, and phenylketonuria. The more common defects of Down's syndrome, neurofibromatosis, and cerebral palsy appear to occur in equal frequency in black and white Americans.Speech-language pathologists, audiologists, and other health professionals who work with black children with birth defects must be familiar with the special problems and the positive features reflected in this population. Difficulties in obtaining adequate medical care, poor health and nutrition, and inadequate financial support are problems plaguing the poor. However, the shared responsibility assumed by the church, the community, and the extended family often results in positive acceptance of the handicapped child. Many families rely on folk medicine whose remedies can often be combined with traditional therapies for the ultimate benefit of the patient.Health professionals must assume a managerial role to ensure that services reach the child with syndrome-related speech, language, and hearing problems.
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PMID:Syndromes, communicative disorders, and black children. 371 79