Scientific background:

Summary: The pathogenetic role of this gene remains to be elucidated.

Methodology:

	research test	Method		Genomic sequencing of the entire coding region
		Turn-around time		25 working days
		Effort		25 working days
		Specimen		DNA|RNA
		Quality assessment		Internal quality control only
	All known and new missense, nonsense and splice mutations can be detected.
	clinical test	Method		Carrier testing
		Turn-around time		5 working days
		Effort		little
		Specimen		DNA
		Quality assessment		Internal quality control only
	The test is only specific about the mutation already known in this kindred.
	research test	Method		Genomic sequencing of the entire coding region
		Turn-around time		25 working days
		Effort		25 working days
		Specimen		DNA|RNA
		Quality assessment		Internal quality control only
	All known and new missense, nonsense and splice mutations can be detected.

Literature: 

Boyd Y et al. (1988) Mapping of 12 translocation breakpoints in the Xp21 region with respect to the locus for Duchenne muscular dystrophy.
Hannema AJ et al. (1984) SLE like syndrome and functional deficiency of C1q in members of a large family.
Lindenbaum RH et al. (1979) Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm.
McAdam RA et al. (1988) A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual.
Sellar GC et al. (1991) Characterization and organization of the genes encoding the A-, B- and C-chains of human complement subcomponent C1q. The complete derived amino acid sequence of human C1q.
Sellar GC et al. (1992) Localization of the gene cluster encoding the A, B, and C chains of human C1q to 1p34.1-1p36.3.
et al. ()
Thompson RA et al. (1980) A genetic defect of the C1q subcomponent of complement associated with childhood (immune complex) nephritis.
Topaloglu R et al. (1996) Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family.