PMID- 10330355
OWN - NLM
STAT- MEDLINE
DCOM- 19990624
LR  - 20181113
IS  - 0002-9297 (Print)
IS  - 0002-9297 (Linking)
VI  - 64
IP  - 6
DP  - 1999 Jun
TI  - Homozygosity mapping of the Achromatopsia locus in the Pingelapese.
PG  - 1679-85
AB  - Achromatopsia, or total color blindness (also referred to as "rod monochromacy"),
      is a severe retinal disorder characterized clinically by an inability to
      distinguish colors, impaired visual acuity in daylight, photophobia, and
      nystagmus. Inherited as an autosomal recessive trait, achromatopsia is rare in
      the general population (1:20,000-1:50,000). Among the Pingelapese people of the
      Eastern Caroline Islands, however, the disorder occurs at an extremely high
      frequency, as recounted in Oliver Sacks's popular book The Island of the
      Colorblind: 4%-10% of this island population have the disorder and approximately 
      30% carry the gene. This extraordinary enrichment of the disease allele most
      likely resulted from a sharp reduction in population in the late 18th century, in
      the aftermath of a typhoon and subsequent geographic and cultural isolation. To
      obtain insights into the genetic basis of achromatopsia, as well as into the
      genetic history of this region of Micronesia, a genomewide search for linkage was
      performed in three Pingelapese kindreds with achromatopsia. A two-step search was
      used with a DNA pooling strategy, followed by genotyping of individual family
      members. Genetic markers that displayed a shift toward homozygosity in the
      affected DNA pool were used to genotype individual members of the kindreds, and
      an achromatopsia locus was identified on 8q21-q22. A maximal multipoint LOD score
      of 9.5 was observed with marker D8S1707. Homozygosity was seen for three adjacent
      markers (D8S275, D8S1119, and D8S1707), whereas recombination was observed with
      the flanking markers D8S1757 and D8S270, defining the outer boundaries of the
      disease-gene locus that spans a distance of <6.5cM.
FAU - Winick, J D
AU  - Winick JD
AD  - The Rockefeller University, New York, USA.
FAU - Blundell, M L
AU  - Blundell ML
FAU - Galke, B L
AU  - Galke BL
FAU - Salam, A A
AU  - Salam AA
FAU - Leal, S M
AU  - Leal SM
FAU - Karayiorgou, M
AU  - Karayiorgou M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
SB  - IM
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 8
MH  - Color Vision Defects/ethnology/*genetics
MH  - Female
MH  - *Homozygote
MH  - Humans
MH  - Lod Score
MH  - Male
MH  - Micronesia/ethnology
MH  - Pedigree
PMC - PMC1377911
EDAT- 1999/05/20 06:00
MHDA- 2000/03/21 09:00
CRDT- 1999/05/20 06:00
PHST- 1999/05/20 06:00 [pubmed]
PHST- 2000/03/21 09:00 [medline]
PHST- 1999/05/20 06:00 [entrez]
AID - S0002-9297(07)63670-2 [pii]
AID - 10.1086/302423 [doi]
PST - ppublish
SO  - Am J Hum Genet. 1999 Jun;64(6):1679-85. doi: 10.1086/302423.