Category Archives: Genetics

Gonna have to freshen up on my Czech. I love reading about Mendel.

The Case of the Missing Mendel Manuscript

A story about Gregor Mendel was featured on the front page of a Czech newspaper. The headline translates as The Case of the Missing Mendel Manuscript.

Ever since learning about my own DNA, I have become fascinated with genetics, particularly the human kind. That fascination extends to Gregor Mendel, an Austrian monk who lived in the 19th century. He discovered the basic principles of heredity through experiments in his garden using plants such as peas.

ajh

FOOTNOTE
I first posted this on my experimental blog at webs.com. Why? Because the wifi at the local Whole Foods would not let me publish it at WordPress for some reason.

I am reading about the IRF5 gene. I have a mutation that isn’t doing me any favors.

Years ago I sent off a couple of cheek swabs to the genetic testing startup 23 and Me.

I have finally gotten around to reviewing the medical and health reports created from my results. I should have looked into this more thoroughly when I had the chance a few years back.

Doctors have been trying to figure why I have had attacks on my gallbladder and bowels. The answers were never discovered, until now. I have a variety of mutations that indicate the likelihood of a few serious diseases.

One such mutation, referred to as rs10488631, is located on the human gene known as IRF5.

Here’s what the 23 and Me report says about it:

“This SNP is located in the IRF5 gene, which encodes a protein that is involved in the regulation of a specific type of immune system cell. Variants in this gene have been associated with autoimmune diseases such as systemic lupus erythematosus (lupus), rheumatoid arthritis, and inflammatory bowel disease. Although its exact role in PBC is unclear, IRF5 has been shown to promote inflammation.”

I’ve always known that my immune system can be a bit touchy. My body sometimes overreacts, whether it’s allergy attacks when I was younger or medications for hypertension.

It’s nice to have some answers, even if it is bad news. Now, hopefully, the docs can help identify these diseases so that therapies can assist my body in combating them.

ajh

 

Fascinating

23andMe
I’ve submitted DNA samples to 23andMe and FamilyTree DNA. The above image shows data from 23andMe, based on a partial testing of my genome.

I already knew that I was of European stock, but it’s nice to see a scientific breakdown. My blood is very German, more than I realized even just a few years ago.

spockeyebrowMy Mom’s paternal side came from there, so that’s not surprising. What is a revelation is that my paternal side has a good amount of German, too. Dad’s mother, maiden name Hay, hails from the German countryside, too. Thankfully Grandma’s older brother submitted some check swabs for analysis.

Previous research led me to believe that the name Hay had probably been a combination of variants, slowly changing over time to be more American, more English: Hoh, Hoeh, and Höh.

This lead me to a close database match and a family tree: a distant cousin with the name Kettering had traced his family back to the Rhineland-Palatinate in western Germany.

The name Hay had been adopted sometime probably in the late 18th century or the early 19th, though it was not universally used by family members. Some decided to use Hoeh instead.

The original surname, Höh, with the umlaut, was likely adopted from a place name or names. Near where the Ketterings hailed from are the towns of Höheinöd, Höhfröschen and Höheischweiler. They are clustered in the same vicinity in Südwestpfalz, near the border with France.

ajh

Clues in Joseph Hill’s Obituary

The obituary of Joseph Hill, a distant cousin shown to be related to my Hill family by DNA, included some interesting details, possible clues as to where to track down more information. It was published in The Christian Index, a Baptist newspaper in Georgia,

Joseph Hill died at his home in Worth County in southern Georgia on August 10th, 1858.

“Joseph Hill was united with the Chiquepin Chapel, Baptist Church, in the 23rd year of his age, and was baptized by the Rev John Kounce in the State of North Carolina.”

The word Chiquepin appears to be misspelled. A cursory search using Google located a Chinquapin Chapel Baptist Church in rural Jones County near Trenton, North Carolina and the site of a Civil War battle. There is also a place called Chinquapin in Duplin County, North Carolina. I am hoping to find evidence of him in either of these places.

Another big clue is the name of his apparent mentor, the Reverend John Kounce. So I will be hunting him down, too, or at least trying to.

ajh

August 22, 1485


Fourteen eighty-five, MCDLXXXV, was a year of upheaval.

August 22, 1485 effectively marked the end of the War of the Roses. According to our modern Julian calendar, it was a Monday.

The war, or wars, was a series of dynastic battles fought between supporters of two rival branches of the royal family, the House of Plantagenet. The two competing houses? Lancaster and York. The ultimate prize was the throne of England.

On the 22nd, two opposing forces, led by Richard III, King of England, and Henry Tudor, who succeeded Richard as King Henry VII, met at Bosworth Field.

Richard and his allies lost, ending Plantagenet rule over England. Richard died during the battle.

Richard’s remains were found last year and confirmed by DNA testing. Now a debate about where to re-bury him rages in Britain.

The reputation of Richard III was hardly helped by William Shakespeare – and Laurence Olivier’s portrayal of him on screen and stage – but the Royal family retains a tender concern for him, even today. Last week the Duke of Gloucester, as patron of The Richard III Society, held a meeting at Kensington Palace attended by the Rt Rev Timothy Stevens, the Bishop of Leicester, Jennifer, Lady Gretton, Leicestershire’s Lord Lieutenant, and Dr Philip Stone, the society’s chairman. “The Duke wants to ensure that the remains are treated with the utmost respect,” Stone tells me. “He wants to see them properly interred.”



I first learned about Richard III while watching Ian McKellen portray him in a film adaptation of Shakespeare’s play.

Later, the drama program chair at my college, Ted Desel, helped better acquaint me with Shakespeare. I chose to study the opening of Richard III in preparation for an audition.

Now is the winter of our discontent
Made glorious summer by this sun of York;
And all the clouds that lour’d upon our house
In the deep bosom of the ocean buried.
Now are our brows bound with victorious wreaths;
Our bruised arms hung up for monuments;
Our stern alarums changed to merry meetings,
Our dreadful marches to delightful measures.
Grim-visaged war hath smooth’d his wrinkled front . . .

Besides Richard, other notables who died during the battle were John Howard, the 1st Duke of Norfolk, Richard Ratcliffe, a supporter of Richard III, and William Brandon, a supporter of Henry VII. William Catesby, a supporter of Richard III, was executed three days later.

ajh

Ten Cousins

A field of sunflowers near Inverell, Australia
A field of sunflowers near Inverell, Australia

Years ago I submitted some cells from the inside of my cheeks for genetic testing. I chose to test the Y chromosome, which is passed on from father to son throughout human history. Therefore, it is a way of seeing who is more closely related than others and even possibly trace a pedigree when other more traditional methods fail.

So I was glad to learn that another match had been made. Thus far I have close matches with ten men. Two share the Hill surname, three if you include me. One is named Underwood. Most–five–are named Johnson. The remaining two are named Richardson and Martin. Martin is the most recent connection.

I contacted Mr. Martin, an Australian, a few days ago, and thankfully he responded and willingly shared about his family.

His great grandfather, John Alexander Martin, “just appears” in New South Wales, Australia in 1860, Mr. Martin says. He is a constable in the town of Inverell. He was born around 1827 and died in 1912.

Mr. Martin hasn’t had much success finding sources documenting John Alexander. A Presbyterian minister took the parish registers with him when he moved on, and it is not clear where they ended up. Another church book recording marriages, the one in which he should be named, is also missing.

“On the birth certificate of one of his children he stated he was from Westminster in London. At this time he is a brick wall before 1860. For all we know he may have changed his name before or on arrival in Australia, so perhaps information about your family might help solve his earlier history, although I gather your family had already been in the USA many years before that.”

Westminster in London may very well have been his home prior to Australia, though he or his offspring may have embellished. The fact that Westminster has been the center of power in England for more than 900 years makes me wonder. I have suggested he look for him in English records, starting in London.

All roads eventually lead to Scotland, however. Some of the Johnson pedigrees name Scotland as the point of origin for their ancestors and at least one Hill line has an oral family tradition claiming the same.

ajh