Caption: Figure 1: Representative agarose gel image showing nucleotide polymorphism by polymerase chain reaction (PCR) restriction fragment length polymorphism of (a) xeroderma pigmentosum complementation group
D (XPD) C22541A at codon 156 of the exon 6 (lane 1: 100bp DNA ladder, lane 2: Uncut PCR product, lane 3: Wild-type allele, lane 4: Heterozygote, and lane 5: Variant allele), (b) XPD G23592A at codon 312 in the exon 10 (Lane 1: 100bp DNA ladder, lane 2: Uncut PCR product, lane 3: Asp/Asp genotype lane 4: Asp/Asn genotype, and lane 5: Cys/Cys genotype), and (c) XPD A35931C at codon 751 in the exon 23 (lane 1: 100bp DNA ladder, lane 2: Uncut PCR product, lane 3: Lys/Lys genotype lane 4: Lys/Gln genotype, and lane 5: Gln/Gln genotype)
Only 2 cases of XP with neurologic alterations have been described in the XPC complementation group
; one was a 17-year-old female patient diagnosed with XPC and systemic lupus erythematosus, who presented with neurological and developmental abnormalities including microcephaly, intellectual disability, growth retardation, and primary amenorrhea .
(2001) The peroxin Pex6p gene is impaired in peroxisome biogenesis disorders of complementation group
FA can be divided into 12 complementation groups
(A, B, C, D1, D2, E, F, G, I, J, L and M) defined by cell fusion studies and 11 of the 12 responsible FA genes have been identified [11-13].
Additionally, the different lethal complementation groups
also show restricted and often localized distributions among European Mus musculus domesticus (Klein et al.
It is well known that there are five main DNA repair pathways with more than 130 genes, of which the nucleotide excision repair (NER) pathway plays a crucial DNA repair mechanism by removing various DNA lesions caused by UV radiation and some chemical agents, such as bulky adducts, cross links, oxidative DNA and alkylating damage and thymidine dimers.6-8 It is reported that xeroderma pigmentosum (XP) complementation groups
in human, XPA to XPG, represent the ratelimiting proteins in the NER pathway.
Hence, [t.sub.1][t.sub.2] heterozygotes for two lethal haplotypes may be fully viable ([v.sub.12] = 1) if [t.sub.1] and [t.sub.2] belong to different "complementation groups
." In this case (i.e., if [v.sub.12] [greater than] 0 whereas [v.sub.11] = [v.sub.22] = 0), we say that there is "complementation with respect to viability."
NER is a crucial DNA repair mechanis by which cells remove DNA lesions caused by UV radiation and some chemical agents.5 It is reported that a defective NER pathway can lead to xeroderma pigmentosum (XP) in human, which is mainly characterized by extreme UV-sensitivity and a high genetic predisposition to sunlight-induced skin cancers following a recessive model.6 Several XP complementation groups
, XPA to XPG, have been identified, which represent the rate-limiting proteins in the NER mechanism.
Fanconi anemia complementation group
A cells are hypersensitive to chromium(VI)-induced toxicity.
Naushad, "Targeted exome sequencing for the identification of complementation groups
in methylmalonic aciduria: a south Indian experience," Clinical Biochemistry, vol.
There is genetic heterogeneity identified by somatic cell fusion studies or complementation groups
. There is depletion of Langerhans cells in the skin of XP patients by UV radiations.
The mutants are known to form two lethal complementation groups
: senseless (sens) (Nolo et al, 2000) and capricious (caps).